RPIA gene

ribose 5-phosphate isomerase A

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

From NCBI Gene:

The protein encoded by this gene is an enzyme, which catalyzes the reversible conversion between ribose-5-phosphate and ribulose-5-phosphate in the pentose-phosphate pathway. This gene is highly conserved in most organisms. The enzyme plays an essential role in the carbohydrate metabolism. Mutations in this gene cause ribose 5-phosphate isomerase deficiency. A pseudogene is found on chromosome 18. [provided by RefSeq, Mar 2010]

From NCBI Gene:

  • Deficiency of ribose-5-phosphate isomerase

From UniProt:

Ribose 5-phosphate isomerase deficiency (RPID): 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. [MIM:608611]

Cytogenetic Location: 2p11.2, which is the short (p) arm of chromosome 2 at position 11.2

Molecular Location: base pairs 88,691,658 to 88,750,935 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2p11.2, which is the short (p) arm of chromosome 2 at position 11.2
  • RPI
  • RPIAD