Disease-gene associations mined from literature

Literature associating PYCR1 and linear skin defects with multiple congenital anomalies 2

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.

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

Linkouts:  STRING  Pharos  UniProt