PYCR1
Sign in to saveAlso known as ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR
Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 gene.
Gene data
PYCR1- Name
- pyrroline-5-carboxylate reductase 1
- Type
- protein-coding
- Aliases
- ARCL2B, ARCL3B, P5C, P5CR, PIG45, PP222, PRO3, PYCR
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].
via MyGene.info
Gene · Ensembl
pyrroline-5-carboxylate reductase 1
- Symbol
- PYCR1
- Biotype
- Protein coding
- Organism
- Homo sapiens
- Location
- 17:81,932,378-81,942,412
- Strand
- Reverse (−)
- Assembly
- GRCh38
via Ensembl · EMBL-EBI
Wikidata facts
- Image
- Protein PYCR1 PDB 2ger.png
Show 5 more facts
- HomoloGene ID
- 56002
- exact match
- identifiers.org/ncbigene/5831
- genomic end
- 79900288
- genomic start
- 79890260
- cytogenetic location
- 17q25.3
Sources (4)
via Wikidata · CC0
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3 sectionsContents
- References
- Further reading
- External links
Pyrroline-5-carboxylate reductase 1, mitochondrial is an enzyme that in humans is encoded by the PYCR1 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. Alternate splicing results in two transcript variants encoding different isoforms. 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.