DISEASES

Disease-gene associations mined from literature

Literature associating XYLT1 and angioid streaks

XYLT1 [ENSP00000261381]

Xylosyltransferase 1; 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). ECO:0000269|PubMed:17189265, ECO:0000269|PubMed:23982343,; Belongs to the glycosyltransferase 14 family. XylT subfamily.

Synonyms:  XYLT1,  XYLT1p,  hXYLT1,  Q86Y38,  Q86Y38p ...

Linkouts:  STRING  Pharos  UniProt  OMIM