CHST14 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human CHST14 wild-type allele is located in the vicinity of 15q15.1 and is approximately 2 kb in length. This allele, which encodes carbohydrate sulfotransferase 14 protein, plays a role in the sulfation of dermatan to form dermatan sulfate. Mutation of the gene is associated with Ehlers-Danlos syndrome musculocontractural type 1 (adducted thumb-clubfoot syndrome).

**Synonyms:** - ATCS - Carbohydrate (Dermatan 4) Sulfotransferase 14 Gene - Carbohydrate (N-Acetylgalactosamine 4-0) Sulfotransferase 14 Gene - Carbohydrate Sulfotransferase 14 wt Allele - D4ST1 - Dermatan 4 Sulfotransferase 1 Gene - EDSMC1 - HNK1ST