PYCR1 Antibody – Rabbit Polyclonal

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]

Function: 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. Ref.10 Ref.13

Catalytic activity: L-proline + NAD(P)+ = 1-pyrroline-5-carboxylate + NAD(P)H. Ref.13

Enzyme regulation: Subject to competitive inhibition by the reaction product proline. Subject to competitive inhibition by stearoyl coenzyme A. Ref.13

Pathway: Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.

Subunit structure: Homodecamer; composed of 5 homodimers. Ref.13

Subcellular location: Mitochondrion Ref.10.

Involvement in disease: Cutis laxa, autosomal recessive, 2B (ARCL2B) [MIM:612940]: A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.15Cutis laxa, autosomal recessive, 3B (ARCL3B) [MIM:614438]: A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.16

Sequence similarities: Belongs to the pyrroline-5-carboxylate reductase family.

Biophysicochemical propertiesKinetic parameters:KM=0.151 mM for NAD+ Ref.13KM=3.06 mM for NADP+

Sequence caution: The sequence AAG17242.1 differs from that shown. Reason: Frameshift at position 214.