Immunogen
Synthesized peptide derived from human PIGM AA range: 147-197
Specificity
This antibody detects endogenous levels of PIGM at Human/Mouse/Rat
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
This gene encodes a transmembrane protein that is located in the endoplasmic reticulum and is involved in GPI-anchor biosynthesis. The glycosylphosphatidylinositol (GPI)-anchor is a glycolipid which contains three mannose molecules in its core backbone. The GPI-anchor is found on many blood cells and serves to anchor proteins to the cell surface. This gene encodes a mannosyltransferase, GPI-MT-I, that transfers the first mannose to GPI on the lumenal side of the endoplasmic reticulum. [provided by RefSeq, Jul 2008],
Function
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.,
Fields
>>Glycosylphosphatidylinositol (GPI)-anchor biosynthesis;>>Metabolic pathways
Human protein sequence Database
Q9H3S5
Mouse protein sequence database
Q8C2R7
Rat protein sequence database
Q9EQY6
Cellular localization
Endoplasmic reticulum membrane ; Multi-pass membrane protein .
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