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Index > Protein center > ALDH5A1(Gene name) > Human
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  • ALDH5A1 (Gene name),
  • Succinate-semialdehyde dehydrogenase, mitochondrial (Protein name ),  SSDH_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    ALDH5A1(SSADH);
    Protein name:
    Succinate-semialdehyde dehydrogenase, mitochondrial;
    Alternative:
    NAD(+)-dependent succinic semialdehyde dehydrogenase;Aldehyde dehydrogenase family 5 member A1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Homotetramer.
    Function:
    Catalyzes one step in the degradation of the inhibitory neurotransmitter gamma-aminobutyric acid (GABA).
    Subcellular Location:
    Mitochondrion
    Protein Attributes:
    Sequence length:
    535
    Sequence:
    50:
    MATCIWLRSC | GARRLGSTFP | GCRLRPRAGG | LVPASGPAPG | PAQLRCYAGR | 
    100:
    LAGLSAALLR | TDSFVGGRWL | PAAATFPVQD | PASGAALGMV | ADCGVREARA | 
    150:
    AVRAAYEAFC | RWREVSAKER | SSLLRKWYNL | MIQNKDDLAR | IITAESGKPL | 
    200:
    KEAHGEILYS | AFFLEWFSEE | ARRVYGDIIH | TPAKDRRALV | LKQPIGVAAV | 
    250:
    ITPWNFPSAM | ITRKVGAALA | AGCTVVVKPA | EDTPFSALAL | AELASQAGIP | 
    300:
    SGVYNVIPCS | RKNAKEVGEA | ICTDPLVSKI | SFTGSTTTGK | ILLHHAANSV | 
    350:
    KRVSMELGGL | APFIVFDSAN | VDQAVAGAMA | SKFRNTGQTC | VCSNQFLVQR | 
    400:
    GIHDAFVKAF | AEAMKKNLRV | GNGFEEGTTQ | GPLINEKAVE | KVEKQVNDAV | 
    450:
    SKGATVVTGG | KRHQLGKNFF | EPTLLCNVTQ | DMLCTHEETF | GPLAPVIKFD | 
    500:
    TEEEAIAIAN | AADVGLAGYF | YSQDPAQIWR | VAEQLEVGMV | GVNEGLISSV | 
    535:
    ECPFGGVKQS | GLGREGSKYG | IDEYLELKYV | CYGGL
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
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    Related Databases
    MIM:
    Pfam:
    KEGG:
    String:
    UniGene:
    SMR:
    Uniprot:
     
    FOR
    ELISA Kit for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Cat.:
    E11322m
    Price:
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Cat.:
    E11322r
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Cat.:
    E11322h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
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    CLIA Kit for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Cat.:
    U11322m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Cat.:
    U11322r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Cat.:
    U11322h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Polyclonal Antibody for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Cat.:
    P11322Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Polyclonal Antibody for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Monoclonal Antibody for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Monoclonal Antibody for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Monoclonal Antibody for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Protein for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Protein for Human Succinate-semialdehyde dehydrogenase, mitochondrial
    Protein for Human Succinate-semialdehyde dehydrogenase, mitochondrial

    R&D Technical Data
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    Precision
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    Recovery
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    Linearity
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    References
    1. 1.
      "Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)."
      Chambliss K.L. , Hinson D.D. , Trettel F. , Malaspina P. , Novelletto A. , Jakobs C. , Gibson K.M.
      Am. J. Hum. Genet.63:399-408(1998) [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] (ISOFORM 1)
      tissue: Lymphocyte.
    2. 2.
      "Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms."
      Blasi P. , Boyl P.P. , Ledda M. , Novelletto A. , Gibson K.M. , Jakobs C. , Hogema B. , Akaboshi S. , Loreni F. , Malaspina P.
      Mol. Genet. Metab.76:348-362(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: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);NUCLEOTIDE SEQUENCE [MRNA] OF 69-535 (ISOFORM 2);ALTERNATIVE SPLICING;VARIANT SER-372
      tissue: B-cell.
    3. 3.
      "Complete sequencing and characterization of 21,243 full-length human cDNAs."
      Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
      Nat. Genet.36:40-45(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 MRNA] (ISOFORM 1);VARIANT TYR-180
      tissue: Brain.
    4. 4.
      "The DNA sequence and analysis of human chromosome 6."
      Mungall A.J. , Palmer S.A. , Sims S.K. , Edwards C.A. , Ashurst J.L. , Wilming L. , Jones M.C. , Horton R. , Hunt S.E. , Scott C.E. , Gilbert J.G.R. , Clamp M.E. , Bethel G. , Milne S. , Ainscough R. , Almeida J.P. , Ambrose K.D. , Andrews T.D. , more...
      Nature425:805-811(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: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    5. 5.
      [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.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(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 MRNA] (ISOFORM 1)
      tissue: Testis.
    7. 7.
      "Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression."
      Chambliss K.L. , Caudle D.L. , Hinson D.D. , Moomaw C.R. , Slaughter C.A. , Jakobs C. , Gibson K.M.
      J. Biol. Chem.270:461-467(1995) [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 213-535 (ISOFORM 1)
      tissue: Liver.
    8. 8.
      "Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization."
      Trettel F. , Malaspina P. , Jodice C. , Novelletto A. , Slaughter C.A. , Caudle D.L. , Hinson D.D. , Chambliss K.L. , Gibson K.M.
      Adv. Exp. Med. Biol.414:253-260(1997) [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: SUBUNIT
      tissue: Brain.
    9. 9.
      "Lysine acetylation targets protein complexes and co-regulates major cellular functions."
      Choudhary C. , Kumar C. , Gnad F. , Nielsen M.L. , Rehman M. , Walther T.C. , Olsen J.V. , Mann M.
      Science325:834-840(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: ACETYLATION [LARGE SCALE ANALYSIS] AT LYS-126;IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    10. 10.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]
    11. 11.
      "Redox-switch modulation of human SSADH by dynamic catalytic loop."
      Kim Y.-G. , Lee S. , Kwon O.-S. , Park S.-Y. , Lee S.-J. , Park B.-J. , Kim K.-J.
      EMBO J.28:959-968(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: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 49-535 IN COMPLEX WITH PRODUCT AND ADP;FUNCTION;ENZYME REGULATION;DISULFIDE BOND;MUTAGENESIS OF ARG-213; ARG-334; CYS-342 AND SER-498
    12. 12.
      "Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses."
      Hogema B.M. , Akaboshi S. , Taylor M. , Salomons G.S. , Jakobs C. , Schutgens R.B. , Wilcken B. , Worthington S. , Maropoulos G. , Grompe M. , Gibson K.M.
      Mol. Genet. Metab.72:218-222(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 SSADHD GLU-268 AND ASP-409
    13. 13.
      "Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T>A of the ALDH5A1 gene."
      Aoshima T. , Kajita M. , Sekido Y. , Ishiguro Y. , Tsuge I. , Kimura M. , Yamaguchi S. , Watanabe K. , Shimokata K. , Niwa T.
      Hum. Hered.53:42-44(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 SSADHD GLU-487
    14. 14.
      "Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency."
      Akaboshi S. , Hogema B.M. , Novelletto A. , Malaspina P. , Salomons G.S. , Maropoulos G.D. , Jakobs C. , Grompe M. , Gibson K.M.
      Hum. Mutat.22:442-450(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 SSADHD PHE-93; ARG-176; TYR-223; MET-233; SER-255; GLU-268; LYS-335; GLN-382; LEU-382; ASP-409 AND ARG-533;VARIANTS ARG-36; TYR-180; LEU-182; SER-237 AND ILE-406;CHARACTERIZATION OF VARIANTS ARG-36; PHE-93; ARG-176; TYR-180; LEU-182; TYR-223; MET-233; SER-237; SER-255; GLU-268; LYS-335; LEU-382; ASP-409 AND ARG-533
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