PYCR1 gene

pyrroline-5-carboxylate reductase 1

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

From NCBI Gene:

This gene encodes an enzyme that catalyzes the NAD(P)H-dependent conversion of pyrroline-5-carboxylate to proline. This enzyme may also play a physiologic role in the generation of NADP(+) in some cell types. The protein forms a homopolymer and localizes to the mitochondrion. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

From UniProt:

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.

From NCBI Gene:

  • Autosomal recessive cutis laxa type 2B
  • Autosomal recessive cutis laxa type 3B

From UniProt:

Cutis laxa, autosomal recessive, 2B (ARCL2B): A disorder characterized by an excessive congenital skin wrinkling, a large fontanelle with delayed closure, a typical facial appearance with downslanting palpebral fissures, a general connective tissue weakness, and varying degrees of growth and developmental delay and neurological abnormalities. Patients do not manifest metabolic abnormalities. [MIM:612940]

Cutis laxa, autosomal recessive, 3B (ARCL3B): A disorder characterized by an aged appearance with distinctive facial features, sparse hair, ophthalmologic abnormalities, intrauterine growth retardation, and cutis laxa. [MIM:614438]

Cytogenetic Location: 17q25.3, which is the long (q) arm of chromosome 17 at position 25.3

Molecular Location: base pairs 81,932,384 to 81,937,328 on chromosome 17 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 17q25.3, which is the long (q) arm of chromosome 17 at position 25.3
  • ARCL2B
  • ARCL3B
  • P5C
  • P5CR
  • PIG45
  • PP222
  • PRO3
  • PYCR