POMT2 rabbit pAb

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 glycosylation.,PTM:N-glycosylated.,similarity:Belongs to the glycosyltransferase 39 family.,similarity:Contains 3 MIR domains.,subunit:Interacts with POMT1.,tissue specificity:Highly expressed in testis; detected at low levels in most tissues.,