The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen and the purity is > 95% (by SDS-PAGE).
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.
蛋白别名: GnT I.2; MDDGA3; MDDGB3; MDDGC3; O-linked mannose beta1,2-N-acetylglucosaminyltransferase; O-mannosyl N-acetylglucosaminyltransferase; OMGnT1; POMGnT1; protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase; Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; RP11-322N21.3; UDP-GlcNAc:alpha-D-mannoside beta-1,2-N-acetylglucosaminyltransferase I.2
基因别名: 0610016I07Rik; 4930467B06Rik; GnT I.2; gnT-I.2; GNTI.2; LGMD2O; MEB; MGAT1.2; POMGNT1; UNQ746/PRO1475
分子生物学功能: protein modifying enzyme