POMT1 encodes protein O-mannosyltransferase 1. POMT1 and POMT2 transfer Man to the hydroxyl group of Ser or Thr of specific proteins such as alpha-dystroglycan using mannose dolicholate as a sugar donor. POMT1 and POMT2 are multiple transmembrane proteins, respectively, and form a complex in the endoplasmic reticulum to exert enzymatic activities. Both POMT1 and POMT2 genes are known to be causative genes of Walker-Warburg syndrome, a congenital muscular dystrophy.
|Human Protein Atlas||ENSG00000130714|
data available from v22.proteinatlas.org