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]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| C1GALT1C1-20-RE | 20 (40 μL) | 200 μL |  |
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| C1GALT1C1-20-OR | 20 (40 μL) | 200 μL |  |
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| C1GALT1C1-20-GO | 20 (40 μL) | 200 μL |  |
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| C1GALT1C1-20-GR | 20 (40 μL) | 200 μL |  |
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| C1GALT1C1-20-AQ | 20 (40 μL) | 200 μL |  |
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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]
Gene Symbol : C1GALT1C1
Gene Name : C1GALT1 specific chaperone 1
Chromosome : CHR X: 120,630,149-120,625,673
Locus : Xq24
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