Gene Symbol | CHST14 |
Entrez Gene ID | 113189 |
Full Name | carbohydrate sulfotransferase 14 |
Synonyms | ATCS,D4ST1,EDSMC1,HNK1ST |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the HNK-1 family of sulfotransferases. The encoded protein transfers sulfate to the C-4 hydroxyl of N-acetylgalactosamine residues in dermatan sulfate. Mutations in this gene have been associated with adducted thumb-clubfoot syndrome.[provided by RefSeq, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Ehlers-Danlos syndrome, musculocontractural type 1, 601776 (3) |