This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]
Function:
Housekeeping enzyme that catalyzes the last step in proline biosynthesis. Can utilize both NAD and NADP, but has higher affinity for NAD. Involved in the cellular response to oxidative stress.
Subunit:
Homodecamer; composed of 5 homodimers.
Subcellular Location:
Mitochondrial
DISEASE:
The disease is caused by mutations affecting the gene represented in this entry.
Disease description:A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.
Similarity:
Belongs to the pyrroline-5-carboxylate reductase family.
SWISS:
P32322
Gene ID:
5831
Database links:
Entrez Gene: 5831 Human
Entrez Gene: 209027 Mouse
Entrez Gene: 287877 Rat
Omim: 179035 Human
SwissProt: P32322 Human
SwissProt: Q922W5 Mouse
SwissProt: B2RYR3 Rat
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