PYCR1, Aa1-319 (PYCR1) Active Protein

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]

PYCR1: 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. Defects in PYCR1 are the cause of cutis laxa autosomal recessive type 2B (ARCL2B). A multisystem disorder characterized by the appearance of premature aging, wrinkled and lax skin with reduced elasticity, joint laxity, craniofacial dysmorphic features, intrauterine growth retardation with some degree of postnatal growth deficiency, and developmental delay. Defects in PYCR1 are the cause of cutis laxa, autosomal recessive, type 3B (ARCL3B). ARCL3B is a disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. Belongs to the pyrroline-5-carboxylate reductase family.

Protein type: Amino Acid Metabolism - arginine and proline; EC 1.5.1.2; Oxidoreductase; Mitochondrial

Chromosomal Location of Human Ortholog: 17q25.3

Cellular Component: mitochondrion; mitochondrial matrix

Molecular Function: identical protein binding; protein binding; pyrroline-5-carboxylate reductase activity

Biological Process: regulation of mitochondrial membrane potential; proline biosynthetic process; amino acid biosynthetic process

Disease: Cutis Laxa, Autosomal Recessive, Type Iib; Cutis Laxa, Autosomal Recessive, Type Iiib