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Gene : C1GALT1C1 Homo sapiens

Name  ? C1GALT1 specific chaperone 1 Cytological Location  Xq24
Brief Description  C1GALT1 specific chaperone 1
Description  This gene encodes a type II transmembrane protein that is similar to the core 1 beta1,3-galactosyltransferase 1, which catalyzes the synthesis of the core-1 structure, also known as Thomsen-Friedenreich antigen, on O-linked glycans. This gene product lacks the galactosyltransferase activity itself, but instead acts as a molecular chaperone required for the folding, stability and full activity of the core 1 beta1,3-galactosyltransferase 1. Mutations in this gene have been associated with Tn syndrome. Alternatively spliced transcript variants encoding the same protein have been identified. [provided by RefSeq, Dec 2009]
  • synonyms:
  • HSPC067,
  • COSMC,
  • C1GALT2,
  • uc004esz.4,
  • HGNC:24338,
  • AJ238398,
  • NM_152692,
  • C38H2-L1,
  • C1GALT1C1,
  • TNPS,
  • C1GALT2,
  • MST143,
  • OTTHUMG00000022305,
  • identifiers:
  • 29071,
  • ENSG00000171155,
  • C1GALT1C1

Genome feature

Region: gene ? Length: 4381  
Location: X:120625674-120630054 reverse strand Cyto location: Xq24

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1 Diseases

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3740 SNPs

5 Cross References

18 Data Sets

25 Homologues

0 Located Features

97 Rna Seq Results