Gene Symbol | PYCR1 |
Entrez Gene ID | 5831 |
Full Name | pyrroline-5-carboxylate reductase 1 |
Synonyms | ARCL2B,ARCL3B,P5C,P5CR,PIG45,PP222,PRO3,PYCR |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Cutis laxa, autosomal recessive, type IIB, 612940 (3); Cutis laxa, autosomal recessive, type IIIB, 614438 (3) |