Aliases for PYCR2 Gene
External Ids for PYCR2 Gene
Previous GeneCards Identifiers for PYCR2 Gene
This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
GeneCards Summary for PYCR2 Gene
PYCR2 (Pyrroline-5-Carboxylate Reductase 2) is a Protein Coding gene. Diseases associated with PYCR2 include Leukodystrophy, Hypomyelinating, 10 and Primary Autosomal Recessive Microcephaly. Among its related pathways are Carbon metabolism and Amino acid synthesis and interconversion (transamination). Gene Ontology (GO) annotations related to this gene include NAD binding and pyrroline-5-carboxylate reductase activity. An important paralog of this gene is PYCR1.
UniProtKB/Swiss-Prot Summary for PYCR2 Gene
Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492).