Language:
  
[Sign in] [Register]   

EIAab logo

Index > Protein center > SHH(Gene name) > Human
  • Add your favorite
  • SHH (Gene name),
  • Sonic hedgehog protein (Protein name ),  SHH_HUMAN from NCBI database.
  • top
  • Come back to page head.
  • |
  • General Annotation
  • |
  • Antigen Annotation
  • |
  • 3D
  • |
  • Predicted Eptitope
  • |
  • Vaild Sequence
  • |
  • Related Databases
  • |
  • Feedback
  • Gene name:
    SHH;
    Protein name:
    Sonic hedgehog protein(SHH);
    Alternative:
    HHG-1;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Interacts with HHATL/GUP1 which negatively regulates HHAT-mediated palmitoylation of the SHH N-terminus. N-product is active as a multimer.
    Function:
    Binds to the patched (PTC) receptor, which functions in association with smoothened (SMO), to activate the transcription of target genes. In the absence of SHH, PTC represses the constitutive signaling activity of SMO. Also regulates another target, the gli oncogene. Intercellular signal essential for a variety of patterning events during development: signal produced by the notochord that induces ventral cell fate in the neural tube and somites, and the polarizing signal for patterning of the anterior-posterior axis of the developing limb bud. Displays both floor plate- and motor neuron-inducing activity. The threshold concentration of N-product required for motor neuron induction is 5-fold lower than that required for floor plate induction.
    Subcellular Location:
    Sonic hedgehog protein N-product Cell membrane Lipid-anchor The N-product either remains associated with lipid rafts at the cell surface, or forms freely diffusible active multimers with its hydrophobic lipid-modified N- and C-termini buried inside.
    Protein Attributes:
    Sequence length:
    462
    Sequence:
    50:
    MLLLARCLLL | VLVSSLLVCS | GLACGPGRGF | GKRRHPKKLT | PLAYKQFIPN | 
    100:
    VAEKTLGASG | RYEGKISRNS | ERFKELTPNY | NPDIIFKDEE | NTGADRLMTQ | 
    150:
    RCKDKLNALA | ISVMNQWPGV | KLRVTEGWDE | DGHHSEESLH | YEGRAVDITT | 
    200:
    SDRDRSKYGM | LARLAVEAGF | DWVYYESKAH | IHCSVKAENS | VAAKSGGCFP | 
    250:
    GSATVHLEQG | GTKLVKDLSP | GDRVLAADDQ | GRLLYSDFLT | FLDRDDGAKK | 
    300:
    VFYVIETREP | RERLLLTAAH | LLFVAPHNDS | ATGEPEASSG | SGPPSGGALG | 
    350:
    PRALFASRVR | PGQRVYVVAE | RDGDRRLLPA | AVHSVTLSEE | AAGAYAPLTA | 
    400:
    QGTILINRVL | ASCYAVIEEH | SWAHRAFAPF | RLAHALLAAL | APARTDRGGD | 
    450:
    SGGGDRGGGG | GRVALTAPGA | ADAPGAGATA | GIHWYSQLLY | QIGTWLLDSE | 
    462:
    ALHPLGMAVK | SS
    3D Structure:
    N/A
    Predicted Eptitope:
    Please Sign in.
    EIAab Sequence  Vaild Sequence:
    Please Sign in.
    Related Databases
    UniGene:
    KEGG:
    String:
    SMR:
    Pfam:
    MIM:
    Uniprot:
     
    FOR
    ELISA Kit for Human SHH
    Cat.:
    E1831h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human SHH
    Cat.:
    E1831r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human SHH
    Cat.:
    E1831m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    ELISA Kit for Human SHH
    Cat.:
    E1831c
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human SHH
    Cat.:
    U1831m
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human SHH
    Cat.:
    U1831c
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human SHH
    Cat.:
    U1831r
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    CLIA Kit for Human SHH
    Cat.:
    U1831h
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    Range:
    Please sign in first.
    Polyclonal Antibody for Human SHH
    Cat.:
    P1831Rb-h
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human SHH
    Cat.:
    P1831Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human SHH
    Polyclonal Antibody for Human SHH
    Cat.:
    P1831Rb-r
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human SHH
    Monoclonal Antibody for Human SHH
    Monoclonal Antibody for Human SHH
    Monoclonal Antibody for Human SHH
    Protein for Human SHH
    Protein for Human SHH
    Protein for Human SHH
    Protein for Human SHH

    R&D Technical Data
    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.
    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.
    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.
    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.
    Precision
    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.
    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.
    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.
    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.
    Recovery
    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.
    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.
    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.
    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.
    Linearity
    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.
    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.
    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.
    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.
    References
    1. 1.
      "Cloning, expression, and chromosomal location of SHH and IHH: two human homologues of the Drosophila segment polarity gene hedgehog."
      Marigo V. , Roberts D.J. , Lee S.M.K. , Tsukurov O. , Levi T. , Gastier J.M. , Epstein D.J. , Gilbert D.J. , Copeland N.G. , Seidman C.E. , Jenkins N.A. , Seidman J.G. , McMahon A.P. , Tabin C.
      Genomics28:44-51(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]
      tissue: Fetal lung.
    2. 2.
      "Expression of Sonic hedgehog and its receptor Patched/Smoothened in human cancer cell lines and embryonic organs."
      Tate G. , Kishimoto K. , Mitsuya T.
      J. Biochem. Mol. Biol. Biophys.4:27-34(2000)
      [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]
    3. 3.
      NIEHS SNPs program
      Submitted (2003-09) 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 [GENOMIC DNA]
    4. 4.
      "The DNA sequence of human chromosome 7."
      Hillier L.W. , Fulton R.S. , Fulton L.A. , Graves T.A. , Pepin K.H. , Wagner-McPherson C. , Layman D. , Maas J. , Jaeger S. , Walker R. , Wylie K. , Sekhon M. , Becker M.C. , O'Laughlin M.D. , Schaller M.E. , Fewell G.A. , Delehaunty K.D. , Miner T.L. , more...
      Nature424:157-164(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. 6.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 24-32;PALMITOYLATION AT CYS-24;CHOLESTERYLATION;MUTAGENESIS OF CYS-24;MASS SPECTROMETRY
    6. 7.
      "Products, genetic linkage and limb patterning activity of a murine hedgehog gene."
      Chang D.T. , Lopez A. , von Kessler D.P. , Chiang C. , Simandl B.K. , Zhao R. , Seldin M.F. , Fallon J.F. , Beachy P.A.
      Development120:3339-3353(1994) [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 119-167
    7. 8.
      "A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly."
      Lettice L.A. , Heaney S.J.H. , Purdie L.A. , Li L. , de Beer P. , Oostra B.A. , Goode D. , Elgar G. , Hill R.E. , de Graaff E.
      Hum. Mol. Genet.12:1725-1735(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: INVOLVEMENT IN TPTPS
    8. 9.
      "Human plasma N-glycoproteome analysis by immunoaffinity subtraction, hydrazide chemistry, and mass spectrometry."
      Liu T. , Qian W.-J. , Gritsenko M.A. , Camp D.G. II , Monroe M.E. , Moore R.J. , Smith R.D.
      J. Proteome Res.4:2070-2080(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: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-278
      tissue: Plasma.
    9. 10.
      "Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer."
      Sun M. , Ma F. , Zeng X. , Liu Q. , Zhao X.-L. , Wu F.-X. , Wu G.-P. , Zhang Z.-F. , Gu B. , Zhao Y.-F. , Tian S.-H. , Lin B. , Kong X.-Y. , Zhang X.-L. , Yang W. , Lo W.H.-Y. , Zhang X.
      J. Med. Genet.45:589-595(2008) [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: INVOLVEMENT IN TPTPS
    10. 11.
      "A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb."
      Wieczorek D. , Pawlik B. , Li Y. , Akarsu N.A. , Caliebe A. , May K.J. , Schweiger B. , Vargas F.R. , Balci S. , Gillessen-Kaesbach G. , Wollnik B.
      Hum. Mutat.31:81-89(2010) [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: INVOLVEMENT IN THYP
    11. 12.
      "ZRS 406A>G mutation in patients with tibial hypoplasia, polydactyly and triphalangeal first fingers."
      Norbnop P. , Srichomthong C. , Suphapeetiporn K. , Shotelersuk V.
      J. Hum. Genet.59:467-470(2014) [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: INVOLVEMENT IN THYP
    12. 13.
      [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 (1.85 ANGSTROMS) OF 25-197 IN COMPLEX WITH ZINC IONS;FUNCTION;DOMAIN
    13. 14.
      "The structure of SHH in complex with HHIP reveals a recognition role for the Shh pseudo active site in signaling."
      Bosanac I. , Maun H.R. , Scales S.J. , Wen X. , Lingel A. , Bazan J.F. , de Sauvage F.J. , Hymowitz S.G. , Lazarus R.A.
      Nat. Struct. Mol. Biol.16:691-697(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 (3.01 ANGSTROMS) OF 29-197 IN COMPLEX WITH HHIP; ZINC AND CALCIUM IONS;DOMAIN;INTERACTION WITH HHIP
    14. 15.
      "Hedgehog pathway antagonist 5E1 binds hedgehog at the pseudo-active site."
      Maun H.R. , Wen X. , Lingel A. , de Sauvage F.J. , Lazarus R.A. , Scales S.J. , Hymowitz S.G.
      J. Biol. Chem.285:26570-26580(2010) [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 (1.83 ANGSTROMS) OF 29-197 IN COMPLEX WITH MONOCLONAL ANTIBODY; ZINC AND CALCIUM IONS;SUBCELLULAR LOCATION;DOMAIN
    15. 16.
      "Mutations in the human Sonic hedgehog gene cause holoprosencephaly."
      Roessler E. , Belloni E. , Gaudenz K. , Jay P. , Berta P. , Scherer S.W. , Tsui L.-C. , Muenke M.
      Nat. Genet.14:357-360(1996) [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 HPE3 ARG-31; GLY-117 AND ARG-117
    16. 17.
      "Mutations in the C-terminal domain of Sonic hedgehog cause holoprosencephaly."
      Roessler E. , Belloni E. , Gaudenz K. , Vargas F. , Scherer S.W. , Tsui L.-C. , Muenke M.
      Hum. Mol. Genet.6:1847-1853(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: VARIANTS HPE3 ARG-31; GLY-117; ARG-117; GLU-224; THR-226 AND THR-383
    17. 18.
      "Expression of the Sonic hedgehog (SHH) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly."
      Odent S. , Atti-Bitach T. , Blayau M. , Mathieu M. , Aug J. , Delezo de A.L. , Gall J.Y. , Le Marec B. , Munnich A. , David V. , Vekemans M.
      Hum. Mol. Genet.8:1683-1689(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: VARIANTS HPE3 HIS-100; GLN-188 AND ASN-222
    18. 19.
      "The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly."
      Nanni L. , Ming J.E. , Bocian M. , Steinhaus K. , Bianchi D.W. , Die-Smulders C. , Giannotti A. , Imaizumi K. , Jones K.L. , Campo M.D. , Martin R.A. , Meinecke P. , Pierpont M.E.M. , Robin N.H. , Young I.D. , Roessler E. , Muenke M.
      Hum. Mol. Genet.8:2479-2488(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: VARIANTS HPE3 VAL-88; LYS-115; ARG-236; 263-ARG--ALA-269 DEL; ASP-290; ALA-424 AND LEU-436
    19. 20.
      "SHH mutation is associated with solitary median maxillary central incisor: a study of 13 patients and review of the literature."
      Nanni L. , Ming J.E. , Du Y. , Hall R.K. , Aldred M. , Bankier A. , Muenke M.
      Am. J. Med. Genet.102:1-10(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 SMMCI PHE-111
    20. 21.
      "Identification of novel mutations in SHH and ZIC2 in a South American (ECLAMC) population with holoprosencephaly."
      Orioli I.M. , Castilla E.E. , Ming J.E. , Nazer J. , Burle de Aguiar M.J. , Llerena J.C. , Muenke M.
      Hum. Genet.109:1-6(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 HPE3 PRO-140 AND PHE-183
    21. 22.
      "Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia."
      Schimmenti L.A. , de la Cruz J. , Lewis R.A. , Karkera J.D. , Manligas G.S. , Roessler E. , Muenke M.
      Am. J. Med. Genet. A116:215-221(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 MCOPCB5 401-SER--GLY-408 DEL
    22. 23.
      "Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog."
      Garavelli L. , Zanacca C. , Caselli G. , Banchini G. , Dubourg C. , David V. , Odent S. , Gurrieri F. , Neri G.
      Am. J. Med. Genet. A127:93-95(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 SMMCI ALA-332
    23. 24.
      "Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation."
      Hehr U. , Gross C. , Diebold U. , Wahl D. , Beudt U. , Heidemann P. , Hehr A. , Mueller D.
      Eur. J. Pediatr.163:347-352(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 HPE3 ALA-27; ILE-267 AND THR-373
    24. 25.
      "Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: mutation review and genotype-phenotype correlations."
      Dubourg C. , Lazaro L. , Pasquier L. , Bendavid C. , Blayau M. , Le Duff F. , Durou M.-R. , Odent S. , David V.
      Hum. Mutat.24:43-51(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 HPE3 THR-6; HIS-100; 106-LEU-ASN-107 DEL; ASP-110; ARG-150; 176-GLU--LYS-178 DEL; GLN-188; ASN-222; PRO-271; ALA-332; GLN-347; THR-354 AND PRO-381
    25. 26.
      "SHH Ile111Asp in alobar holoprosencephaly in a proposita, whose mother had only a solitary median maxillary incisor."
      El-Jaick K.B. , Brunoni D. , Castilla E.E. , Moreira M.A. , Orioli I.M.
      Am. J. Med. Genet. A136:345-345(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 HPE3 ASN-111
    26. 27.
      "Single median maxillary central incisor, hypophyseal tumor, and SHH mutation."
      Ribeiro L.A. , Richieri-Costa A.
      Am. J. Med. Genet. A136:346-347(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 HPE3 GLN-140
    27. 28.
      "Molecular mechanisms of Sonic hedgehog mutant effects in holoprosencephaly."
      Maity T. , Fuse N. , Beachy P.A.
      Proc. Natl. Acad. Sci. U.S.A.102:17026-17031(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: CHARACTERIZATION OF VARIANTS HPE3 ARG-31; VAL-88; HIS-100; LYS-115; ARG-117; GLY-117 AND GLN-188
    28. 29.
      "Holoprosencephaly-like phenotype: clinical and genetic perspectives."
      Richieri-Costa A. , Ribeiro L.A.
      Am. J. Med. Genet. A140:2587-2593(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: VARIANTS HPE3 GLN-140; PRO-218 AND TYR-363
    29. 30.
      "The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis."
      Roessler E. , El-Jaick K.B. , Dubourg C. , Velez J.I. , Solomon B.D. , Pineda-Alvarez D.E. , Lacbawan F. , Zhou N. , Ouspenskaia M. , Paulussen A. , Smeets H.J. , Hehr U. , Bendavid C. , Bale S. , Odent S. , David V. , Muenke M.
      Hum. Mutat.30:E921-E935(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: VARIANTS HPE3 THR-6; PRO-17; LEU-26; ALA-27; ARG-31; PRO-39; LYS-53; VAL-83; PHE-84; VAL-88; HIS-100; ARG-102; TYR-102; 106-LEU-ASN-107 DEL; PHE-109; THR-110; ASP-110; PHE-111; ASN-111; LYS-115; GLY-117; ARG-117; MET-124; LYS-136; PRO-140; GLN-140; ASP-143; PRO-144; ASN-147; ARG-150; LYS-150; ARG-156; CYS-170; HIS-171; 176-GLU--LYS-178 DEL; ARG-183; PHE-183; TYR-183; LEU-184; GLN-188; GLU-196; 196-GLY--PRO-200 DEL; VAL-197; SER-198; PHE-198; PRO-218; ASN-222; GLU-224; THR-226; VAL-231; GLY-232; PRO-234; ARG-236; ASN-236; VAL-241; LEU-241; ASN-255; 263-ARG--ALA-269 DEL; ILE-267; PRO-271; GLU-275; TRP-280; ASP-290; ALA-296; CYS-310; SER-321; ALA-332; VAL-346; ARG-347; GLN-347; LEU-347; THR-354; LEU-362; TYR-363; CYS-364; THR-373; ARG-374; ASP-376; SER-377; 378-ALA--PHE-380 DEL; PRO-381; PRO-382; THR-383; THR-391; 402-GLY--GLY-409 DEL; 405-ASP--GLY-409 DEL; GLY-411 INS; ALA-416; ALA-424; ASN-435; LEU-436 AND ARG-456
    Product Feedback Wall
    Hot Genes
    Atf2 ASPRO ACE ALCAM C19orf80 Trap1a KSR2 Gdf5
    Top Searches
    Ubiquitin-protein ligase metalloproteinase Ubiquitin ELISA Tumor necrosis Asprosin TRAP1A Alpha
    Why choose EIAAB
    Our products have been quoted by many publications in famous journals such as Cell; Cell Metabolism; Hepatology; Biomaterials.more
    Further Information
    About us Protein center Bank account Distributors Terms & Conditions Career eiaab.com.cn

    Copyright & copy www.eiaab.com2006-2016 All Rights Reserved    EIAab         Email:eiaab@eiaab.com

    鄂ICP备10015095号-1

    鄂公网安备 42018502005535号

    Twitter