Aliases for PYCR1 Gene
External Ids for PYCR1 Gene
Previous GeneCards Identifiers for PYCR1 Gene
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]
GeneCards Summary for PYCR1 Gene
PYCR1 (Pyrroline-5-Carboxylate Reductase 1) is a Protein Coding gene. Diseases associated with PYCR1 include Cutis Laxa, Autosomal Recessive, Type Iib and Cutis Laxa, Autosomal Recessive, Type Iiib. Among its related pathways are Amino acid synthesis and interconversion (transamination) and Urea cycle and metabolism of amino groups. GO annotations related to this gene include identical protein binding and oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor. An important paralog of this gene is PYCR2.
UniProtKB/Swiss-Prot for PYCR1 Gene
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.