Immunogen
Synthesized peptide derived from human POMT2 AA range: 177-227
Specificity
This antibody detects endogenous levels of POMT2 at Human/Mouse
Source
Polyclonal, Rabbit,IgG
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
WB 1:500-2000;IHC-p 1:50-300
Purification process (Immunogen)
The antibody was affinity-purified from rabbit serum by affinity-chromatography using specific immunogen.
Background
The protein encoded by this gene is an O-mannosyltransferase that requires interaction with the product of the POMT1 gene for enzymatic function. The encoded protein is found in the membrane of the endoplasmic reticulum. Defects in this gene are a cause of Walker-Warburg syndrome (WWS).[provided by RefSeq, Oct 2008],
Function
catalytic activity:Dolichyl phosphate D-mannose + protein = dolichyl phosphate + O-D-mannosylprotein.,cofactor:Magnesium. Manganese and calcium ions suppress enzyme activity.,disease:Defects in POMT2 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.,function:Transfers mannosyl residues to the hydroxyl group of serine or threonine residues. Coexpression of both POMT1 and POMT2 is necessary for enzyme activity, expression of either POMT1 or POMT2 alone is insufficient.,online information:GlycoGene database,pathway:Protein modification; protein gl
Fields
>>Other types of O-glycan biosynthesis;>>Mannose type O-glycan biosynthesis;>>Metabolic pathways
Human protein sequence Database
Q9UKY4
Mouse protein sequence database
Q8BGQ4
Rat protein sequence database
Cellular localization
Endoplasmic reticulum membrane ; Multi-pass membrane protein .
Tissue expression
Highly expressed in testis; detected at low levels in most tissues.
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