Literature associating PYCR2 and hypomyelinating leukodystrophy 6
PYCR2 [ENSP00000342502]
Pyrroline-5-carboxylate reductase 2; 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 . Involved in cellular response to oxidative stress . ; Belongs to the pyrroline-5-carboxylate reductase family.
Synonyms: PYCR2, PYCR2p, hPYCR2, A0A087WTV6, A0A087WX69 ...