Literature associating RXYLT1 and Walker-Warburg syndrome
RXYLT1 [ENSP00000261234]
Ribitol-5-phosphate xylosyltransferase 1; UDP-xylosyltransferase involved in the biosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3- N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-like domain-containing extracellular proteins with high affinity (Probable). Acts as a UDP-D-xylose:ribitol-5-phosphate beta1,4- xylosyltransferase, which catalyzes the transfer of UDP-D-xylose to ribitol 5-phosphate (Rbo5P) to form the Xylbeta1-4Rbo5P linkage on O- mannosyl glycan (Probable). ECO:0000269|PubMed:27733679, ECO:0000269|PubMed:29477842,; Belongs to the RXYLT1 family.
Synonyms: RXYLT1, RXYLT1p, hRXYLT1, F5GXF8, G3V1K2 ...