DISEASES

Disease-gene associations mined from literature

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 ...

Linkouts:  STRING  Pharos  UniProt