MGP Database

New search | Record Overview | Ontology/Pathway Information | Domain Information | UniProt Annotations | Related Proteins
MGP004548

UniProt Annotations

Entry Information
Gene Nameribose 5-phosphate isomerase A
Protein EntryRPIA_HUMAN
UniProt IDP49247
SpeciesHuman
Comments
Comment typeDescription
Catalytic ActivityD-ribose 5-phosphate = D-ribulose 5-phosphate.
DiseaseRibose 5-phosphate isomerase deficiency (RPID) [MIM:608611]: A patient has been described with a deficiency of ribose 5-phosphate isomerase who presented with leukoencephalopathy and peripheral neuropathy. Proton magnetic resonance spectroscopy of the brain revealed a highly elevated level of the polyols ribitol and D-arabitol, which were subsequently also found in high concentrations in body fluids. Deficient activity of RPIA, one of the pentose phosphate pathway enzymes, has been demonstrated in fibroblasts. {ECO:0000269|PubMed:14988808}. Note=The disease is caused by mutations affecting the gene represented in this entry.
PathwayCarbohydrate degradation; pentose phosphate pathway; D- ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.
Sequence CautionSequence=AAK95569.1; Type=Frameshift; Positions=24; Evidence={ECO:0000305};
SimilarityBelongs to the ribose 5-phosphate isomerase family. {ECO:0000305}.
  logo