MPI gene

mannose phosphate isomerase

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Involved in the synthesis of the GDP-mannose and dolichol-phosphate-mannose required for a number of critical mannosyl transfer reactions.

From NCBI Gene:

  • Congenital disorder of glycosylation type 1B

From UniProt:

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. [MIM:602579]

Cytogenetic Location: 15q24.1, which is the long (q) arm of chromosome 15 at position 24.1

Molecular Location: base pairs 74,890,011 to 74,899,457 on chromosome 15 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 15q24.1, which is the long (q) arm of chromosome 15 at position 24.1
  • CDG1B
  • PMI
  • PMI1