PYCR1

Last updated
PYCR1
Protein PYCR1 PDB 2ger.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases PYCR1 , ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR, pyrroline-5-carboxylate reductase 1
External IDs OMIM: 179035 MGI: 2384795 HomoloGene: 56002 GeneCards: PYCR1
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_144795
NM_001348222

RefSeq (protein)
Location (UCSC) Chr 17: 81.93 – 81.94 Mb Chr 11: 120.64 – 120.64 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 gene. [5] [6]

Contents

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. Alternate splicing results in two transcript variants encoding different isoforms. [6] As reported by Bruno Reversade and colleagues, PYCR1 deficiency in humans causes a progeroid disease known as De Barsy Syndrome mainly affecting connective tissues with dermis thinning and bone fragility. [7]

Related Research Articles

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<span class="mw-page-title-main">Pyrroline-5-carboxylate reductase</span>

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<span class="mw-page-title-main">Aldehyde dehydrogenase 18 family, member A1</span> Protein-coding gene in the species Homo sapiens

Delta-1-pyrroline-5-carboxylate synthetase (P5CS) is an enzyme that in humans is encoded by the ALDH18A1 gene. This gene is a member of the aldehyde dehydrogenase family and encodes a bifunctional ATP- and NADPH-dependent mitochondrial enzyme with both gamma-glutamyl kinase and gamma-glutamyl phosphate reductase activities. The encoded protein catalyzes the reduction of glutamate to delta1-pyrroline-5-carboxylate, a critical step in the de novo biosynthesis of proline, ornithine and arginine. Mutations in this gene lead to hyperammonemia, hypoornithinemia, hypocitrullinemia, hypoargininemia and hypoprolinemia and may be associated with neurodegeneration, cataracts and connective tissue diseases. Alternatively spliced transcript variants, encoding different isoforms, have been described for this gene. As reported by Bruno Reversade and colleagues, ALDH18A1 deficiency or dominant-negative mutations in P5CS in humans causes a progeroid disease known as De Barsy Syndrome.

<span class="mw-page-title-main">De Barsy syndrome</span> Medical condition

De Barsy syndrome is a rare autosomal recessive genetic disorder. Symptoms include cutis laxa as well as other eye, musculoskeletal, and neurological abnormalities. It is usually progressive, manifesting side effects that can include clouded corneas, cataracts, short stature, dystonia, or progeria.

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Pyrroline-5-carboxylate reductase family, member 2 is a protein that in humans is encoded by the PYCR2 gene.

References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000183010 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000025140 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. Dougherty KM, Brandriss MC, Valle D (January 1992). "Cloning human pyrroline-5-carboxylate reductase cDNA by complementation in Saccharomyces cerevisiae". The Journal of Biological Chemistry. 267 (2): 871–5. doi: 10.1016/S0021-9258(18)48364-0 . PMID   1730675.
  6. 1 2 "Entrez Gene: PYCR1 pyrroline-5-carboxylate reductase 1".
  7. Reversade B, Escande-Beillard N, Dimopoulou A, Fischer B, Chng SC, Li Y, et al. (September 2009). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–21. doi:10.1038/ng.413. PMID   19648921. S2CID   10221927.

Further reading