PYCR2

PYCR2

A gene on chromosome 1q42.12 that encodes a housekeeping enzyme that catalyses the last step in proline biosynthesis.
References in periodicals archive ?
PYCR2 Mutations cause a lethal syndrome of microcephaly and failure to thrive.
In another genetic disorder that is characterized by microcephaly and hypomyelination (the absence of lax and wrinkled skin), a mutation has been identified at residue Arg119 in PYCR2 which corresponds to the same mutated region in PYCR1 in affected individuals.
El-Quessny et al., "Mutations in PYCR2, encoding pyrroline-5-carboxylate reductase 2, cause microcephaly and hypomyelination," American Journal of Human Genetics, vol.