Disease-gene associations mined from literature

Literature associating TMEM5 and congenital muscular dystrophy 1B

TMEM5 [ENSP00000261234]

UDP-D-xylose:ribitol-5-phosphate beta1,4-xylosyltransferase; 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. 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; Belongs to the TMEM5 family.

Synonyms:  TMEM5,  TMEM5p,  hTMEM5,  F5GXF8,  G3V1K2 ...

Linkouts:  STRING  Pharos  UniProt  OMIM