MPI Antibody (N-Term) Blocking Peptide

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]

MPI: Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions. Defects in MPI are the cause of congenital disorder of glycosylation type 1B (CDG1B); 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. Belongs to the mannose-6-phosphate isomerase type 1 family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Carbohydrate Metabolism - fructose and mannose; Carbohydrate Metabolism - amino sugar and nucleotide sugar; EC 5.3.1.8; Isomerase

Chromosomal Location of Human Ortholog: 15q24.1

Cellular Component: cytosol

Molecular Function: mannose-6-phosphate isomerase activity

Biological Process: GDP-mannose biosynthetic process

Disease: Congenital Disorder Of Glycosylation, Type Ib