• PMGT1 rabbit pAb
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YP-Ab-10946-100UL

PMGT1 rabbit pAb

PMGT1 rabbit pAb

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  • Gene Name: POMGNT1 MGAT1.2 UNQ746/PRO1475
  • Immunogen: Synthesized peptide derived from human PMGT1 AA range: 171-221
  • Specificity: This antibody detects endogenous levels of PMGT1 at Human/Mouse/Rat
  • Composition: Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
  • Source: Polyclonal, Rabbit,IgG
  • Dilution ratio: WB 1:500-2000;IHC-p 1:50-300
  • Purification process: The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
  • Concentration: 1 mg/ml
  • Storage: -20°C/1 year
  • Background: 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],
  • Function: 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
  • Species: Human; Mouse;Rat
  • Range: WB;IHC
  • Protein: PMGT1
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