RBCC Red Blood Cell Collection

RPIA_HUMAN

Source: hRBCD ; ID: IPI00026513
PM19886704
PM23856902
PM22954596
Marked as 'Non-membrane protein'
Confidence: high (present in two of the MS resources) Search PubMed for
(RBC AND this entry)
Gene names: RPIA , RPI
Protein names and data: RPIA_HUMAN , Ribose-5-phosphate isomerase; 5.3.1.6 , Phosphoriboisomerase Lenght: 311 a.a.
Mass: 33269 Da
fasta formatted sequence
Catalytic activity: D-ribose 5-phosphate = D-ribulose 5-phosphate.
Pathway: Carbohydrate degradation; pentose phosphate pathway; D- ribose 5-phosphate from D-ribulose 5-phosphate (non-oxidative stage): step 1/1.
Disease: ( OMIM: 180430 608611 ) Ribose 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. Note=The disease is caused by mutations affecting the gene represented in this entry.

Genetic variants

135 - 135 A -> V (in RPID). VAR_019122

Database cross-references

UniProt: P49247
Ensembl: ENST00000283646
MIM: 180430
MIM: 608611
neXtProt: NX_P49247
Antibodypedia: P49247 (may not find the protein thus also not any antibody)
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