PIGM rabbit pAb

disease:Defects in PIGM are the cause of glycosylphosphatidylinositol deficiency (GPID) [MIM:610293]. GPID is an autosomal recessive trait that results in a propensity to venous thrombosis and seizures. Deficiency is due to a point mutation in the regulatory sequences of PIGM that disrupts binding of the transcription factor SP1 to its cognate promoter motif, leading to a strong reduction of expression.,function:Mannosyltransferase involved in glycosylphosphatidylinositol-anchor biosynthesis. Transfers the first alpha-1,4-mannose to GlcN-acyl-PI during GPI precursor assembly.,pathway:Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor biosynthesis.,similarity:Belongs to the PIGM family.,