POMT1 is an O-mannosyltransferase that requires interaction with the product of the POMT2 gene for enzymatic function.
The encoded protein is found in the membrane of the endoplasmic reticulum.
Defects in this gene are a cause of Walker-Warburg syndrome (WWS) and limb-girdle muscular dystrophy type 2K (LGMD2K).O-mannosylation is an important protein modification in eukaryotes that is initiated by an evolutionarily conserved family of protein O-mannosyltransferases.
POMT1 shares sequence similarity with protein O-mannosyltransferases of S.
cerevisiae.
In yeast, these enzymes are located in the endoplasmic reticulum (ER) and are required for cell integrity and cell wall rigidity.
POMT1 also shows similarity to the Drosophila 'rotated abdomen' (rt) gene, which when mutated causes defects in myogenesis and muscle structure.[supplied by OMIM].