DISEASES

Disease-gene associations mined from literature

Literature associating PYCR1 and autosomal recessive cutis laxa type IA

PYCR1 [ENSP00000384949]

Pyrroline-5-carboxylate reductase 1, mitochondrial; 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. ; Belongs to the pyrroline-5-carboxylate reductase family.

Synonyms:  PYCR1,  PYCR1p,  hPYCR1,  A0A024R8U9,  E2QRB3 ...

Linkouts:  STRING  Pharos  UniProt