DISEASES

Disease-gene associations mined from literature

Literature associating RXYLT1 and autosomal recessive limb-girdle muscular dystrophy type 2O

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 ...

Linkouts:  STRING  Pharos  UniProt  OMIM