| Entrez gene ID | | 29071 |
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| Official gene symbol | | C1GALT1C1 |
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| Full name | | C1GALT1-specific chaperone 1 |
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| Aliases | | ,C1GALT2,C38H2-L1,COSMC,HSPC067,MGC19947,MST143, |
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| Gene summary | | 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] |
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| Location | | Chromosome: X Locus: Xq24 |
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| Gene position | | 119764005 - 119759529 Map Viewer |
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| Gene orientation | | minus |
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| Gene size | | 4477 bp |
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| Gene sequence |
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| OMIM ID | | 300611 |
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