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Positive Samples: SH-SY5Y, Mouse kidney, Mouse heart, Mouse brain, Rat testis
Immunogen sequence: HLLEEDDSLY CISAWNDQGY EHTAEDPALL YRVETMPGLG WVLRRSLYKE ELEPKWPTPE KLWDWDMWMR MPEQRRGREC IIPDVSRSYH FGIVGLNMNG YFHEAYFKKH KFNTVPGVQL RNVDSLKKEA YEVEVHRLLS EAEVLDHSKN PCEDSFLPDT EGHTYVAFIR MEKDDDFTTW TQLAKCLHIW DLDVRGNHRG LWRLFRKKNH FLVVGVPASP YSVKKPPSVT PIFLEPPPKE EGAPGAPEQT
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