Protein O-mannosyl-transferase 2 (POMT2)

Protein O-mannosyl-transferase 2 (POMT2) is an enzyme encoded by the POMT2 gene, which forms part of the protein O-mannosyltransferase complex with POMT1. This complex is an integral membrane protein located in the endoplasmic reticulum and catalyzes the transfer of mannose to serine or threonine residues of target proteins, with α-dystroglycan being a critical substrate. Glycosylation by the POMT complex is essential for α-dystroglycan function, which anchors the cytoskeleton to the extracellular matrix, stabilizes muscle fibers, and controls neuronal migration during development. Mutations in the POMT2 gene cause various congenital muscular dystrophies, including the severe Walker-Warburg syndrome, due to impaired glycosylation of α-dystroglycan, which leads to destabilized muscle fibers and abnormal brain and eye development.

Other names

Dolichyl-phosphate-mannose--protein mannosyltransferase 2LGMD2NLGMDR14MDDGA2MDDGB2MDDGC2protein O-mannosyltransferase 2POMT2_HUMAN