DISEASES

Disease-gene associations mined from literature

Literature associating GALNT11 and Renpenning syndrome

GALNT11 [ENSP00000416787]

UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 11; Polypeptide N-acetylgalactosaminyltransferase that catalyzes the initiation of protein O-linked glycosylation and is involved in left/right asymmetry by mediating O-glycosylation of NOTCH1. O-glycosylation of NOTCH1 promotes activation of NOTCH1, modulating the balance between motile and immotile (sensory) cilia at the left-right organiser (LRO). Polypeptide N- acetylgalactosaminyltransferases catalyze the transfer of an N- acetyl-D-galactosamine residue to a serine or threonine residue on the protein receptor. Displays the same enzyme activity toward MUC1, MUC4, and EA2 than GALNT1. Not involved in glycosylation of erythropoietin (EPO).

Synonyms:  GALNT11,  GALNT11p,  hGALNT11,  B7Z3L9,  C9J111 ...

Linkouts:  STRING  Pharos  UniProt