Mpi Anticuerpo(D-15): sc-161875

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Mpi (mannose phosphate isomerase), also known as PMI (phosphomannose isomerase) or PMI1, is a 423 amino acid zinc metalloenzyme belonging to the mannose-6-phosphate isomerase type 1 family, and is expressed in all tissues, more abundantly in heart, brain and skeletal muscle. A steady supply of D-mannose derivatives, which are required for most glycosylation reactions, is maintained by Mpi. Localized to the cytoplasm, Mpi utilizes zinc as a cofactor and catalyzes the interconversion of fructose-6-phosphate and mannose-6-phosphate. Mutations in the gene encoding Mpi lead to congenital disorder of glycosylation type 1B (CDG1B), also designated carbohydrate-deficient glycoprotein syndrome type Ib (CDGS1B), which is characterized by protein-losing enteropathy. Congenital disorders of glycosylation are metabolic deficiencies in glycoprotein biosynthesis that usually results in severe mental and psychomotor retardation.