Protein O-Linked Mannose N-Acetylglucosaminyltransferase 2 is an enzyme which is encoded by the gene POMGNT2.

Gene

The POMGNT2 gene is located on the short arm (p) of chromosome 3 on position 22.1, from base pair from base pair 43,079,229 to base pair 43,106,085.

Function

This enzyme is located in the endoplasmic reticulum (ER), which has β-1,4-N-Acetylglucosaminyl-transferase activity on α-Dystroglycan protein.

Clinical significance

Mutations in this gene causes autosomal recessive form of Limb-Girdle muscular dystrophy and Walker-Warburg syndrome.