免疫原
Purified recombinant human Mannose Phosphate Isomerase protein fragments expressed in E.coli.
特异性
This antibody detects endogenous levels of Mannose Phosphate Isomerase and does not cross-react with related proteins.
组成
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
纯化工艺
The antibody was affinity-purified from mouse ascites by affinity-chromatography using epitope-specific immunogen.
其他名称
PMI1;CDG1B;FLJ39201;Mannose 6 phosphate isomerase;Mannose-6-phosphate isomerase; MANNOSEPHOSPHATE ISOMERASE;MGC94106;MPI;MPI_HUMAN;Phosphohexomutase;phosphomannose isomerase 1;Phosphomannose isomerase;PMI;PMI1.
背景
Phosphomannose isomerase catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate and plays a critical role in maintaining the supply of D-mannose derivatives, which are required for most glycosylation reactions. Mutations in the MPI gene were found in patients with carbohydrate-deficient glycoprotein syndrome, type Ib. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2014],
功能
catalytic activity:D-mannose 6-phosphate = D-fructose 6-phosphate.,cofactor:Binds 1 zinc ion per subunit.,disease:Defects in MPI are the cause of congenital disorder of glycosylation type 1B (CDG1B) [MIM:602579]; also known as carbohydrate-deficient glycoprotein syndrome type Ib (CDGS1B). Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually cause severe mental and psychomotor retardation. They are characterized by under-glycosylated serum glycoproteins. CDG1B is clinically characterized by protein-losing enteropathy.,function:Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.,pathway:Nucleotide-sugar biosynthesis; GDP-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 1/2.,similarity:Belongs to the mannose-6-phosp
