Protein O-mannosyl-transferase 1, Dolichyl-phosphate-mannose--protein mannosyltransferase 1, POMT1
The protein encoded by this gene is anO-mannosyltransferase that requires interaction with the product ofthe POMT2 gene for enzymatic function. The encoded protein is foundin the membrane of the endoplasmic reticulum. Defects in this geneare a cause of Walker-Warburg syndrome (WWS) and limb-girdlemuscular dystrophy type 2K (LGMD2K). Several transcript variantsencoding different isoforms have been found for this gene.