POMT1

Protein-O-Mannosyltransferase 1

Predicted to enable mannosyltransferase activity. Acts upstream of or within extracellular matrix organization. Located in acrosomal vesicle and sarcoplasmic reticulum. Part of dolichyl-phosphate-mannose-protein mannosyltransferase complex. Is expressed in several structures, including central nervous system; eye; germ cell of gonad; heart; and hemolymphoid system gland. Used to study muscular dystrophy-dystroglycanopathy type B1. Human ortholog(s) of this gene implicated in cardiomyopathy; cleft lip; lissencephaly; and muscular dystrophy (multiple). Orthologous to human POMT1 (protein O-mannosyltransferase 1).