Pyrroline-5-carboxylate reductase 1, mitochondrial
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.
Involvement in disease
Cutis laxa, autosomal recessive, 2B
ARCL2B
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Cutis laxa, autosomal recessive, 3B
ARCL3B
A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa.
None
The disease is caused by variants affecting the gene represented in this entry.
Pathway
Amino-acid biosynthesis; L-proline biosynthesis; L-proline from L-glutamate 5-semialdehyde: step 1/1.
Sequence Similarities
Belongs to the pyrroline-5-carboxylate reductase family.
Cellular localization
- Mitochondrion
Alternative names
P5C reductase 1, P5CR 1, PYCR1