POMGNT1 polyclonal antibody

The product of the POMGNT1 gene, protein O-mannose beta-1,2-N-acetylglucosaminyltransferase, participates in O-mannosyl glycan synthesis. POMGnT1 is an N(in)/C(out) (type II) membrane protein localized in the medial-Golgi that initiates the conversion of high mannose N-glycans to complex N-glycans. Specifically, POMGnT1 is a glycosylation enzyme that participates in the synthesis of O-mannosyl glycan, a laminin-binding ligand of alpha-dystroglycan that is rarely synthesized in mammals. Mutations in the POMGNT1 gene cause muscle-eye-brain disease (MEB), an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities and lissencephaly.