Disease-gene associations mined from literature

Literature associating GYLTL1B and congenital muscular dystrophy due to LMNA mutation

GYLTL1B [ENSP00000432869]

LARGE xylosyl- and glucuronyltransferase 2; Bifunctional glycosyltransferase with both xylosyltransferase and beta-1,3-glucuronyltransferase activities 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). Phosphorylated O-mannosyl trisaccharid is required for binding laminin G-like domain-containing extracellular proteins with high affinity. Elongates the glucuronyl-beta-1,4-xylose-beta disaccharide primer structure by adding repeating units [-3-Xylose-alpha-1,3-GlcA-beta-1-] to produce a heteropolysaccharide. Has a higher activity toward alpha-dystroglycan than LARGE.

Synonyms:  GYLTL1B,  GYLTL1Bp,  hGYLTL1B,  E9PIZ2,  H0YDB8 ...

Linkouts:  STRING  Pharos  UniProt