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PYCR1

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PYCR1
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesPYCR1, ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR, pyrroline-5-carboxylate reductase 1
External IDsOMIM: 179035; MGI: 2384795; HomoloGene: 56002; GeneCards: PYCR1; OMA:PYCR1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_144795
NM_001348222

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

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

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]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000183010Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000025140Ensembl, 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. ^ a b "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

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  • PDBe-KB provides an overview of all the structure information available in the PDB for Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)