MPI
Function
Isomerase that catalyzes the interconversion of fructose-6-P and mannose-6-P and has a critical role in the supply of D-mannose derivatives required for many eukaryotic glycosylation reactions.
Involvement in disease
Congenital disorder of glycosylation 1B
CDG1B
A form of congenital disorder of glycosylation, a multisystem disorder caused by a defect in glycoprotein biosynthesis and characterized by under-glycosylated serum glycoproteins. Congenital disorders of glycosylation result in a wide variety of clinical features, such as defects in the nervous system development, psychomotor retardation, dysmorphic features, hypotonia, coagulation disorders, and immunodeficiency. The broad spectrum of features reflects the critical role of N-glycoproteins during embryonic development, differentiation, and maintenance of cell functions. CDG1B is clinically characterized by protein-losing enteropathy.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Nucleotide-sugar biosynthesis; GDP-alpha-D-mannose biosynthesis; alpha-D-mannose 1-phosphate from D-fructose 6-phosphate: step 1/2.
Sequence Similarities
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.
Cellular localization
- Cytoplasm
Alternative names
PMI1, MPI, Mannose-6-phosphate isomerase, Phosphohexomutase, Phosphomannose isomerase, PMI