| 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 |
|
| 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) |









































User Manual