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]
Function:
Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.
Subcellular Location:
Cytoplasm.
Tissue Specificity:
Expressed in all tissues, but more abundant in heart, brain and skeletal muscle.
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.
Similarity:
Belongs to the mannose-6-phosphate isomerase type 1 family.
SWISS:
P34949
Gene ID:
4351
Database links:
Entrez Gene: 4351 Human
Entrez Gene: 513586 Cow
Entrez Gene: 110119 Mouse
Entrez Gene: 300741 Rat
Omim: 154550 Human
SwissProt: Q3SZI0 Cow
SwissProt: P34949 Human
SwissProt: Q924M7 Mouse
SwissProt: Q68FX1 Rat
Unigene: 75694 Human
Unigene: 247218 Mouse
Unigene: 44246 Rat
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