XYLT1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human XYLT1 wild-type allele is located in the vicinity of 16p12.3 and is approximately 369 kb in length. This allele, which encodes xylosyltransferase 1 protein, plays a role in the synthesis of chondroitin sulfate and dermatan sulfate proteoglycans and skeletal development. Mutations in the gene are associated with pseudoxanthoma elasticum and Desbuquois dysplasia 2.

**Synonyms:** - Beta-D-Xylosyltransferase 1 Gene - DBQD2 - PXYLT1 - Protein Xylosyltransferase 1 Gene - XT-I - XT1 - XTI - XYLTI - Xylosyltransferase 1 wt Allele - Xylosyltransferase Iota Gene - xylT-I