PYCR2
Function
Housekeeping enzyme that catalyzes the last step in proline biosynthesis. In some cell types, such as erythrocytes, its primary function may be the generation of NADP(+). Can utilize both NAD and NADP. Has higher affinity for NADP, but higher catalytic efficiency with NADH (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492).
Involvement in disease
Leukodystrophy, hypomyelinating, 10
HLD10
An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume.
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.
Tissue Specificity
Detected in erythrocytes (at protein level) (PubMed:2722838, PubMed:6894153). Expressed in fetal brain (PubMed:25865492).
Cellular localization
- Cytoplasm
- Mitochondrion
Alternative names
Pyrroline-5-carboxylate reductase 2, P5C reductase 2, P5CR 2, PYCR2