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],
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Function:
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-phosphate isomerase type 1 family.,tissue specificity:Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.,
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Cellular Localization:
Cytoplasm .
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Tissue Expression:
Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.
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Research Areas:
>>Fructose and mannose metabolism ;
>>Amino sugar and nucleotide sugar metabolism ;
>>Metabolic pathways ;
>>Biosynthesis of cofactors ;
>>Biosynthesis of nucleotide sugars