• 靶点：
• PMGT1

• 简介：
• >>Mannose type O-glycan biosynthesis;>>Metabolic pathways

• 基因名称：
• POMGNT1 MGAT1.2 UNQ746/PRO1475

• 蛋白名称：
• PMGT1

• Human Gene Id：
• 55624

• Human Swiss Prot No：
• Q8WZA1

• Mouse Gene Id：
• 68273

• Mouse Swiss Prot No：
• Q91X88

• Rat Gene Id：
• 362567

• Rat Swiss Prot No：
• Q5XIN7

• 免疫原：
• Synthesized peptide derived from human PMGT1 AA range: 171-221

• 特异性：
• This antibody detects endogenous levels of PMGT1 at Human/Mouse/Rat

• 组成：
• Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.

• 来源：
• Polyclonal, Rabbit,IgG

• 稀释：
• WB 1:500-2000;IHC 1:50-300

• 纯化工艺：
• The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.

• 浓度：
• 1 mg/ml

• 储存：
• -15°C to -25°C/1 year(Do not lower than -25°C)

• 分子量：
• 73kD

• 背景：
• This gene encodes a type II transmembrane protein that resides in the Golgi apparatus. It participates in O-mannosyl glycosylation and is specific for alpha linked terminal mannose. Mutations in this gene may be associated with muscle-eye-brain disease and several congenital muscular dystrophies. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Feb 2014],

• 功能：
• catalytic activity:UDP-N-acetyl-D-glucosamine + Man-R = N-acetyl-D-glucosamine-beta-1,2-Man-R + UDP.,cofactor:Manganese.,disease:Defects in POMGNT1 are a cause of Walker-Warburg syndrome (WWS) [MIM:236670]; also known as hydrocephalus-agyria-retinal dysplasia or HARD syndrome. WWS is an autosomal recessive disorder characterized by cobblestone lissencephaly, hydrocephalus, agyria, retinal displasia, with or without encephalocele. It is often associated with congenital muscular dystrophy and usually lethal within the first few months of life.,disease:Defects in POMGNT1 are the cause of muscle-eye-brain disease (MEB) [MIM:253280]. MEB is an autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly and cerebellar hypoplasia. MEB patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retina

• 细胞定位：
• Golgi apparatus membrane ; Single-pass type II membrane protein .

• 组织表达：
• Constitutively expressed. An additional weaker band is also detected in spinal cord, lymph node, and trachea. Expressed especially in astrocytes. Also expressed in immature and mature neurons.

Identification of a Novel Glycosyltransferase Prognostic Signature in Hepatocellular Carcinoma Based on LASSO Algorithm Front Genet. 2022 Mar 9;13:823728. WB Human
货号：YT6311

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