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Invitrogen
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This target displays homology in the following species: Cow: 86%; Dog: 93%; Guinea Pig: 86%; Horse: 86%; Human: 100%; Mouse: 100%; Pig: 93%; Rabbit: 86%; Rat: 100%
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: MDDGA3; MDDGB3; MDDGC3; O-mannosyl N-acetylglucosaminyltransferase; OMGnT1; POMGnT1; Protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1; RP11-322N21.3
基因别名: 0610016I07Rik; 4930467B06Rik; Pomgnt1
UniProt ID: (Mouse) Q91X88
Entrez Gene ID: (Mouse) 68273