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Index > Protein center > ABCA1(Gene name) > Human
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  • ABCA1 (Gene name),
  • ATP-binding cassette sub-family A member 1 (Protein name ),  ABCA1_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • 3D
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Related Databases
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  • Citations  (1)
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  • Gene name:
    ABCA1(ABC1;CERP);
    Protein name:
    ATP-binding cassette sub-family A member 1;
    Alternative:
    Cholesterol efflux regulatory protein;ATP-binding cassette transporter 1(ABC-1;ATP-binding cassette 1);
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with MEGF10.
    Function:
    cAMP-dependent and sulfonylurea-sensitive anion transporter. Key gatekeeper influencing intracellular cholesterol transport.
    Subcellular Location:
    Membrane Multi-pass membrane protein
    Protein Attributes:
    Sequence length:
    2261
    Sequence:
    50:
    MACWPQLRLL | LWKNLTFRRR | QTCQLLLEVA | WPLFIFLILI | SVRLSYPPYE | 
    100:
    QHECHFPNKA | MPSAGTLPWV | QGIICNANNP | CFRYPTPGEA | PGVVGNFNKS | 
    150:
    IVARLFSDAR | RLLLYSQKDT | SMKDMRKVLR | TLQQIKKSSS | NLKLQDFLVD | 
    200:
    NETFSGFLYH | NLSLPKSTVD | KMLRADVILH | KVFLQGYQLH | LTSLCNGSKS | 
    250:
    EEMIQLGDQE | VSELCGLPRE | KLAAAERVLR | SNMDILKPIL | RTLNSTSPFP | 
    300:
    SKELAEATKT | LLHSLGTLAQ | ELFSMRSWSD | MRQEVMFLTN | VNSSSSSTQI | 
    350:
    YQAVSRIVCG | HPEGGGLKIK | SLNWYEDNNY | KALFGGNGTE | EDAETFYDNS | 
    400:
    TTPYCNDLMK | NLESSPLSRI | IWKALKPLLV | GKILYTPDTP | ATRQVMAEVN | 
    450:
    KTFQELAVFH | DLEGMWEELS | PKIWTFMENS | QEMDLVRMLL | DSRDNDHFWE | 
    500:
    QQLDGLDWTA | QDIVAFLAKH | PEDVQSSNGS | VYTWREAFNE | TNQAIRTISR | 
    550:
    FMECVNLNKL | EPIATEVWLI | NKSMELLDER | KFWAGIVFTG | ITPGSIELPH | 
    600:
    HVKYKIRMDI | DNVERTNKIK | DGYWDPGPRA | DPFEDMRYVW | GGFAYLQDVV | 
    650:
    EQAIIRVLTG | TEKKTGVYMQ | QMPYPCYVDD | IFLRVMSRSM | PLFMTLAWIY | 
    700:
    SVAVIIKGIV | YEKEARLKET | MRIMGLDNSI | LWFSWFISSL | IPLLVSAGLL | 
    750:
    VVILKLGNLL | PYSDPSVVFV | FLSVFAVVTI | LQCFLISTLF | SRANLAAACG | 
    800:
    GIIYFTLYLP | YVLCVAWQDY | VGFTLKIFAS | LLSPVAFGFG | CEYFALFEEQ | 
    850:
    GIGVQWDNLF | ESPVEEDGFN | LTTSVSMMLF | DTFLYGVMTW | YIEAVFPGQY | 
    900:
    GIPRPWYFPC | TKSYWFGEES | DEKSHPGSNQ | KRISEICMEE | EPTHLKLGVS | 
    950:
    IQNLVKVYRD | GMKVAVDGLA | LNFYEGQITS | FLGHNGAGKT | TTMSILTGLF | 
    1000:
    PPTSGTAYIL | GKDIRSEMST | IRQNLGVCPQ | HNVLFDMLTV | EEHIWFYARL | 
    1050:
    KGLSEKHVKA | EMEQMALDVG | LPSSKLKSKT | SQLSGGMQRK | LSVALAFVGG | 
    1100:
    SKVVILDEPT | AGVDPYSRRG | IWELLLKYRQ | GRTIILSTHH | MDEADVLGDR | 
    1150:
    IAIISHGKLC | CVGSSLFLKN | QLGTGYYLTL | VKKDVESSLS | SCRNSSSTVS | 
    1200:
    YLKKEDSVSQ | SSSDAGLGSD | HESDTLTIDV | SAISNLIRKH | VSEARLVEDI | 
    1250:
    GHELTYVLPY | EAAKEGAFVE | LFHEIDDRLS | DLGISSYGIS | ETTLEEIFLK | 
    1300:
    VAEESGVDAE | TSDGTLPARR | NRRAFGDKQS | CLRPFTEDDA | ADPNDSDIDP | 
    1350:
    ESRETDLLSG | MDGKGSYQVK | GWKLTQQQFV | ALLWKRLLIA | RRSRKGFFAQ | 
    1400:
    IVLPAVFVCI | ALVFSLIVPP | FGKYPSLELQ | PWMYNEQYTF | VSNDAPEDTG | 
    1450:
    TLELLNALTK | DPGFGTRCME | GNPIPDTPCQ | AGEEEWTTAP | VPQTIMDLFQ | 
    1500:
    NGNWTMQNPS | PACQCSSDKI | KKMLPVCPPG | AGGLPPPQRK | QNTADILQDL | 
    1550:
    TGRNISDYLV | KTYVQIIAKS | LKNKIWVNEF | RYGGFSLGVS | NTQALPPSQE | 
    1600:
    VNDAIKQMKK | HLKLAKDSSA | DRFLNSLGRF | MTGLDTKNNV | KVWFNNKGWH | 
    1650:
    AISSFLNVIN | NAILRANLQK | GENPSHYGIT | AFNHPLNLTK | QQLSEVALMT | 
    1700:
    TSVDVLVSIC | VIFAMSFVPA | SFVVFLIQER | VSKAKHLQFI | SGVKPVIYWL | 
    1750:
    SNFVWDMCNY | VVPATLVIII | FICFQQKSYV | SSTNLPVLAL | LLLLYGWSIT | 
    1800:
    PLMYPASFVF | KIPSTAYVVL | TSVNLFIGIN | GSVATFVLEL | FTDNKLNNIN | 
    1850:
    DILKSVFLIF | PHFCLGRGLI | DMVKNQAMAD | ALERFGENRF | VSPLSWDLVG | 
    1900:
    RNLFAMAVEG | VVFFLITVLI | QYRFFIRPRP | VNAKLSPLND | EDEDVRRERQ | 
    1950:
    RILDGGGQND | ILEIKELTKI | YRRKRKPAVD | RICVGIPPGE | CFGLLGVNGA | 
    2000:
    GKSSTFKMLT | GDTTVTRGDA | FLNKNSILSN | IHEVHQNMGY | CPQFDAITEL | 
    2050:
    LTGREHVEFF | ALLRGVPEKE | VGKVGEWAIR | KLGLVKYGEK | YAGNYSGGNK | 
    2100:
    RKLSTAMALI | GGPPVVFLDE | PTTGMDPKAR | RFLWNCALSV | VKEGRSVVLT | 
    2150:
    SHSMEECEAL | CTRMAIMVNG | RFRCLGSVQH | LKNRFGDGYT | IVVRIAGSNP | 
    2200:
    DLKPVQDFFG | LAFPGSVLKE | KHRNMLQYQL | PSSLSSLARI | FSILSQSKKR | 
    2250:
    LHIEDYSVSQ | TTLDQVFVNF | AKDQSDDDHL | KDLSLHKNQT | VVDVAVLTSF | 
    2261:
    LQDEKVKESY | V
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    KEGG:
    String:
    Pfam:
    UniGene:
    SMR:
    UniGene:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human ATP-binding cassette sub-family A member 1
    Cat.:
    E1242h
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human ATP-binding cassette sub-family A member 1
    Cat.:
    E1242m
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    MSDS:
    Please sign in first.
    Packing:
    96T
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    CLIA Kit for Human ATP-binding cassette sub-family A member 1
    Cat.:
    U1242m
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    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human ATP-binding cassette sub-family A member 1
    Cat.:
    U1242h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    Polyclonal Antibody for Human ATP-binding cassette sub-family A member 1
    Cat.:
    P1242Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human ATP-binding cassette sub-family A member 1
    Cat.:
    P1242Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human ATP-binding cassette sub-family A member 1
    Monoclonal Antibody for Human ATP-binding cassette sub-family A member 1
    Protein for Human ATP-binding cassette sub-family A member 1
    Protein for Human ATP-binding cassette sub-family A member 1

    R&D Technical Data
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    Precision
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    Recovery
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    Linearity
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
    For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.
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    References
    1. 1.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA];VARIANT ARG-1587
    2. 2.
      "ABCA1 gene expression and apoA-I-mediated cholesterol efflux are regulated by LXR."
      Schwartz K. , Lawn R.M. , Wade D.P.
      Submitted (2000-07) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA];VARIANT ARG-1587
      tissue: Skin.
    3. 3.
      "Human and mouse ABCA1 comparative sequencing and transgenesis studies revealing novel regulatory sequences."
      Qiu Y. , Cavelier L. , Chiu S. , Yang X. , Rubin E. , Cheng J.-F.
      Genomics73:66-76(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT ARG-1587
    4. 4.
      "A new topological model of functional human ABCA1-signal peptide cleavage and glycosylation of a large extracellular domain."
      Tanaka A.R. , Abe-Dohmae S. , Arakawa R. , Sadanami K. , Kidera A. , Kioka N. , Amachi T. , Yokoyama S. , Ueda K.
      Submitted (2001-02) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    5. 5.
      "DNA sequence and analysis of human chromosome 9."
      Humphray S.J. , Oliver K. , Hunt A.R. , Plumb R.W. , Loveland J.E. , Howe K.L. , Andrews T.D. , Searle S. , Hunt S.E. , Scott C.E. , Jones M.C. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Ashwell R.I.S. , Babbage A.K. , Babbage S. , Bagguley C.L. , more...
      Nature429:369-374(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    6. 6.
      "Molecular cloning of the human ATP-binding cassette transporter 1 (hABC1): evidence for sterol-dependent regulation in macrophages."
      Langmann T. , Klucken J. , Reil M. , Liebisch G. , Luciani M.-F. , Chimini G. , Kaminski W.E. , Schmitz G.
      Biochem. Biophys. Res. Commun.257:29-33(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 21-2261;VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168
    7. 7.
      "Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1."
      Rust S. , Rosier M. , Funke H. , Real J. , Amoura Z. , Piette J.-C. , Deleuze J.-F. , Brewer H.B. Jr. , Duverger N. , Denefle P. , Assmann G.
      Nat. Genet.22:352-355(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] OF 21-2261;VARIANTS THR-1555; ARG-1587; PRO-1648 AND PRO-2168
    8. 8.
      "Protein kinase A site-specific phosphorylation regulates ATP-binding cassette A1 (ABCA1)-mediated phospholipid efflux."
      See R.H. , Caday-Malcolm R.A. , Singaraja R.R. , Zhou S. , Silverston A. , Huber M.T. , Moran J. , James E.R. , Janoo R. , Savill J.M. , Rigot V. , Zhang L.H. , Wang M. , Chimini G. , Wellington C.L. , Tafuri S.R. , Hayden M.R.
      J. Biol. Chem.277:41835-41842(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT SER-1042 AND SER-2054
    9. 9.
      "The zinc finger protein 202 (ZNF202) is a transcriptional repressor of ATP binding cassette transporter A1 (ABCA1) and ABCG1 gene expression and a modulator of cellular lipid efflux."
      Porsch-Oezcueruemez M. , Langmann T. , Heimerl S. , Borsukova H. , Kaminski W.E. , Drobnik W. , Honer C. , Schumacher C. , Schmitz G.
      J. Biol. Chem.276:12427-12433(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REPRESSION BY ZNF202
    10. 10.
      "Bacterial lipopolysaccharide induces expression of ABCA1 but not ABCG1 via an LXR-independent pathway."
      Kaplan R. , Gan X. , Menke J.G. , Wright S.D. , Cai T.-Q.
      J. Lipid Res.43:952-959(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INDUCTION BY LPS
    11. 11.
      "Cooperation between engulfment receptors: the case of ABCA1 and MEGF10."
      Hamon Y. , Trompier D. , Ma Z. , Venegas V. , Pophillat M. , Mignotte V. , Zhou Z. , Chimini G.
      PLoS ONE1:E120-E120(2006) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH MEGF10
    12. 12.
      "Efflux and atherosclerosis: the clinical and biochemical impact of variations in the ABCA1 gene."
      Singaraja R.R. , Brunham L.R. , Visscher H. , Kastelein J.J.P. , Hayden M.R.
      Arterioscler. Thromb. Vasc. Biol.23:1322-1332(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    13. 13.
      "Palmitoylation of ATP-binding cassette transporter A1 is essential for its trafficking and function."
      Singaraja R.R. , Kang M.H. , Vaid K. , Sanders S.S. , Vilas G.L. , Arstikaitis P. , Coutinho J. , Drisdel R.C. , El-Husseini Ael D. , Green W.N. , Berthiaume L. , Hayden M.R.
      Circ. Res.105:138-147(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PALMITOYLATION AT CYS-3; CYS-23; CYS-1110 AND CYS-1111;SUBCELLULAR LOCATION
    14. 14.
      "Formation of two intramolecular disulfide bonds is necessary for ApoA-I-dependent cholesterol efflux mediated by ABCA1."
      Hozoji M. , Kimura Y. , Kioka N. , Ueda K.
      J. Biol. Chem.284:11293-11300(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: DISULFIDE BONDS;SUBCELLULAR LOCATION
    15. 15.
      "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
      Chen R. , Jiang X. , Sun D. , Han G. , Wang F. , Ye M. , Wang L. , Zou H.
      J. Proteome Res.8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-98 AND ASN-244
      tissue: Liver.
    16. 16.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD2 THR-1091 AND 1893-GLU-ASP-1894 DEL
    17. 17.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 ARG-597 AND ARG-1477;VARIANT HDLD2 LEU-693 DEL
    18. 18.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 SER-590; SER-935 AND VAL-937;VARIANTS ALA-399 AND MET-883
    19. 19.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 ARG-597; ILE-929 AND ARG-1477;VARIANTS HDLD2 LEU-693 DEL; THR-1091; 1893-GLU-ASP-1894 DEL AND LEU-2150
    20. 20.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 ASN-1289 AND HIS-1800
    21. 21.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 ASP-1046;VARIANT HDLD2 CYS-230;VARIANTS LYS-219; ILE-825; MET-883 AND ARG-1587
    22. 22.
      "A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease."
      Bertolini S. , Pisciotta L. , Seri M. , Cusano R. , Cantafora A. , Calabresi L. , Franceschini G. , Ravazzolo R. , Calandra S.
      Atherosclerosis154:599-605(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 TRP-587;VARIANT PRO-2168
    23. 23.
      "Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease."
      Brousseau M.E. , Bodzioch M. , Schaefer E.J. , Goldkamp A.L. , Kielar D. , Probst M. , Ordovas J.M. , Aslanidis C. , Lackner K.J. , Bloomfield Rubins H. , Collins D. , Robins S.J. , Wilson P.W.F. , Schmitz G.
      Atherosclerosis154:607-611(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LYS-219; MET-883 AND ASP-1172
    24. 24.
      "Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome."
      Lapicka-Bodzioch K. , Bodzioch M. , Kruell M. , Kielar D. , Probst M. , Kiec B. , Andrikovics H. , Boettcher A. , Hubacek J. , Aslanidis C. , Suttorp N. , Schmitz G.
      Biochim. Biophys. Acta1537:42-48(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 LEU-1506
    25. 25.
      "Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease."
      Huang W. , Moriyama K. , Koga T. , Hua H. , Ageta M. , Kawabata S. , Mawatari K. , Imamura T. , Eto T. , Kawamura M. , Teramoto T. , Sasaki J.
      Biochim. Biophys. Acta1537:71-78(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 ASN-1289 AND TRP-2081;VARIANT LYS-219
    26. 26.
      "Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease."
      Clee S.M. , Zwinderman A.H. , Engert J.C. , Zwarts K.Y. , Molhuizen H.O.F. , Roomp K. , Jukema J.W. , van Wijland M. , van Dam M. , Hudson T.J. , Brooks-Wilson A. , Genest J. Jr. , Kastelein J.J.P. , Hayden M.R.
      Circulation103:1198-1205(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LYS-219; ALA-399; MET-771; PRO-774; ASN-776; ILE-825; MET-883; ASP-1172; ARG-1587 AND CYS-1731
    27. 27.
      "ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease."
      Hong S.H. , Rhyne J. , Zeller K. , Miller M.
      Atherosclerosis164:245-250(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD2 LEU-85
    28. 28.
      "Novel ABCA1 compound variant associated with HDL cholesterol deficiency."
      Hong S.H. , Rhyne J. , Zeller K. , Miller M.
      Biochim. Biophys. Acta1587:60-64(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD2 TYR-1099 AND SER-2009
    29. 29.
      "Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency."
      Nishida Y. , Hirano K. , Tsukamoto K. , Nagano M. , Ikegami C. , Roomp K. , Ishihara M. , Sakane N. , Zhang Z. , Tsujii K. , Matsuyama A. , Ohama T. , Matsuura F. , Ishigami M. , Sakai N. , Hiraoka H. , Hattori H. , Wellington C. , more...
      Biochem. Biophys. Res. Commun.290:713-721(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 THR-255;VARIANT ATHEROSCLEROSIS ASP-1611
    30. 30.
      "Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T."
      Hong S.H. , Riley W. , Rhyne J. , Friel G. , Miller M.
      Clin. Chem.48:2066-2070(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 LEU-590
    31. 31.
      "Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 (ABCA1) gene in Japanese patients with Tangier disease."
      Guo Z. , Inazu A. , Yu W. , Suzumura T. , Okamoto M. , Nohara A. , Higashikata T. , Sano R. , Wakasugi K. , Hayakawa T. , Yoshida K. , Suehiro T. , Schmitz G. , Mabuchi H.
      J. Hum. Genet.47:325-329(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 HIS-935 AND SER-935
    32. 32.
      "Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis."
      Ishii J. , Nagano M. , Kujiraoka T. , Ishihara M. , Egashira T. , Takada D. , Tsuji M. , Hattori H. , Emi M.
      J. Hum. Genet.47:366-369(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 TRP-1680
    33. 33.
      "Novel polypyrimidine variation (IVS46: del T -39._.-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease."
      Hong S.H. , Rhyne J. , Miller M.
      Circ. Res.93:1006-1012(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 GLN-1851
    34. 34.
      "ABCA1 gene polymorphisms and their associations with coronary artery disease and plasma lipids in males from three ethnic populations in Singapore."
      Tan J.H. , Low P.S. , Tan Y.S. , Tong M.C. , Saha N. , Yang H. , Heng C.K.
      Hum. Genet.113:106-117(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ILE-825 AND MET-883;ASSOCIATION OF VARIANTS ILE-825 AND MET-883 WITH HIGHER PLASMA HDL CHOLESTEROL
    35. 35.
      "Association of extreme blood lipid profile phenotypic variation with 11 reverse cholesterol transport genes and 10 non-genetic cardiovascular disease risk factors."
      Morabia A. , Cayanis E. , Costanza M.C. , Ross B.M. , Flaherty M.S. , Alvin G.B. , Das K. , Gilliam T.C.
      Hum. Mol. Genet.12:2733-2743(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LYS-219; MET-771; ILE-825; MET-883; ASP-1172; PHE-1181 AND ARG-1587
    36. 36.
      "A common variant in the ABCA1 gene is associated with a lower risk for premature coronary heart disease in familial hypercholesterolaemia."
      Cenarro A. , Artieda M. , Castillo S. , Mozas P. , Reyes G. , Tejedor D. , Alonso R. , Mata P. , Pocovi M. , Civeira F.
      J. Med. Genet.40:163-168(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT LYS-219
    37. 37.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 LEU-590; ARG-840 AND CYS-1068;VARIANTS MET-771; SER-2163 AND ILE-2244
    38. 38.
      "Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders."
      Pisciotta L. , Hamilton-Craig I. , Tarugi P. , Bellocchio A. , Fasano T. , Alessandrini P. , Bon G.B. , Siepi D. , Mannarino E. , Cattin L. , Averna M. , Cefalu A.B. , Cantafora A. , Calandra S. , Bertolini S.
      Atherosclerosis172:309-320(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 LYS-284; CYS-482; HIS-1800; SER-1901 AND HIS-2196
    39. 39.
      "Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency."
      Albrecht C. , Baynes K. , Sardini A. , Schepelmann S. , Eden E.R. , Davies S.W. , Higgins C.F. , Feher M.D. , Owen J.S. , Soutar A.K.
      Biochim. Biophys. Acta1689:47-57(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS HDLD1 PHE-1379 AND ASP-1704;CHARACTERIZATION OF VARIANTS HDLD1 PHE-1379 AND ASP-1704
    40. 40.
      "Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population."
      Frikke-Schmidt R. , Nordestgaard B.G. , Jensen G.B. , Tybjaerg-Hansen A.
      J. Clin. Invest.114:1343-1353(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 HIS-1800;VARIANTS LYS-219; CYS-364; MET-771; PRO-774; ASN-776; ILE-825; MET-883; SER-1065; ASP-1172; VAL-1216 AND ARG-1587
    41. 41.
      "Multiple rare alleles contribute to low plasma levels of HDL cholesterol."
      Cohen J.C. , Kiss R.S. , Pertsemlidis A. , Marcel Y.L. , McPherson R. , Hobbs H.H.
      Science305:869-872(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD1 HIS-1800;VARIANTS ALA-248; GLN-401; TRP-496; SER-590; GLN-638; SER-774; GLY-815; PHE-1181; THR-1341; GLY-1376; GLN-1615; THR-1670; GLN-1680 AND GLU-2243
    42. 42.
      "A novel missense mutation in ABCA1 results in altered protein trafficking and reduced phosphatidylserine translocation in a patient with Scott syndrome."
      Albrecht C. , McVey J.H. , Elliott J.I. , Sardini A. , Kasza I. , Mumford A.D. , Naoumova R.P. , Tuddenham E.G. , Szabo K. , Higgins C.F.
      Blood106:542-549(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT SCOTT SYNDROME GLN-1925;CHARACTERIZATION OF VARIANT SCOTT SYNDROME GLN-1925
    43. 43.
      "Mutation in ABCA1 predicted risk of ischemic heart disease in the Copenhagen City Heart Study Population."
      Frikke-Schmidt R. , Nordestgaard B.G. , Schnohr P. , Steffensen R. , Tybjaerg-Hansen A.
      J. Am. Coll. Cardiol.46:1516-1520(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ASN-776;ASSOCIATION OF VARIANT ASN-776 WITH INCREASED RISK OF ISCHEMIC HEART DISEASE
    44. 44.
      "Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency."
      Fasano T. , Bocchi L. , Pisciotta L. , Bertolini S. , Calandra S.
      J. Lipid Res.46:817-822(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT HDLD2 TRP-1897
    45. 45.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS [LARGE SCALE ANALYSIS] ASP-210; TYR-917; THR-1407 AND THR-2109
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