FEATURES

FAMILY

DESCRIPTION

Also known as XYLT1_HUMAN, XYLT1, XT1. Catalyzes the first step in the biosynthesis of chondroitin sulfate and dermatan sulfate proteoglycans, such as DCN. Transfers D-xylose from UDP-D-xylose to specific serine residues of the core protein (PubMed:15461586, PubMed:17189265, PubMed:24581741, PubMed:23982343). Required for normal embryonic and postnatal skeleton development, especially of the long bones (PubMed:24581741, PubMed:23982343). Required for normal maturation of chondrocytes during bone development, and normal onset of ossification (By similarity). Monomer.

EXTERNAL LINKS

uniprot
enzyme classification
PhosphoSitePlus

XYLT1

Mutations

Mutation(s) distribution

Mutations table