PYCR2 gene

pyrroline-5-carboxylate reductase family member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Nov 2012]

From UniProt:

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 (PubMed:2722838, PubMed:6894153). Involved in cellular response to oxidative stress (PubMed:25865492).

From NCBI Gene:

  • Leukodystrophy, hypomyelinating, 10

From UniProt:

Leukodystrophy, hypomyelinating, 10 (HLD10): An autosomal recessive neurologic disorder characterized by postnatal microcephaly, severely delayed psychomotor development, hypomyelination, and reduced cerebral white-matter volume. [MIM:616420]

Cytogenetic Location: 1q42.12, which is the long (q) arm of chromosome 1 at position 42.12

Molecular Location: base pairs 225,919,877 to 225,924,340 on chromosome 1 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 1q42.12, which is the long (q) arm of chromosome 1 at position 42.12
  • HLD10
  • P5CR2