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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
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
UniProt ID: (Human) Q8WZA1, (Rat) Q5XIN7, (Mouse) Q91X88
Entrez Gene ID: (Human) 55624, (Rat) 362567, (Mouse) 68273
分子生物学功能:
protein modifying enzyme
