Gene: PYCR2

Alternate names for this Gene: HLD10|P5CR2

Gene Summary: This gene belongs to the pyrroline-5-carboxylate reductase family. The encoded mitochondrial protein catalyzes the conversion of pyrroline-5-carboxylate to proline, which is the last step in proline biosynthesis. Alternatively spliced transcript variants have been described for this gene.

Gene is located in Chromosome: 1

Location in Chromosome : 1q42.12

Description of this Gene: pyrroline-5-carboxylate reductase 2

Type of Gene: protein-coding

rs886037931 in PYCR2 gene and Abnormality of brain morphology PMID 27860360 2017 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.

rs886037931 in PYCR2 gene and LEUKODYSTROPHY, HYPOMYELINATING, 10 PMID 27860360 2017 Homozygous variants in pyrroline-5-carboxylate reductase 2 (PYCR2) in patients with progressive microcephaly and hypomyelinating leukodystrophy.