Pyrroline-5-carboxylate reductase 1, mitochondrial is an
enzyme that in humans is encoded by the PYCR1gene.[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]
^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.
PMID19648921.
S2CID10221927.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Meng Z, Lou Z, Liu Z, Li M, Zhao X, Bartlam M, Rao Z (June 2006). "Crystal structure of human pyrroline-5-carboxylate reductase". Journal of Molecular Biology. 359 (5): 1364–77.
doi:
10.1016/j.jmb.2006.04.053.
PMID16730026.
External links
PDBe-KB provides an overview of all the structure information available in the PDB for Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)
Pyrroline-5-carboxylate reductase 1, mitochondrial is an
enzyme that in humans is encoded by the PYCR1gene.[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]
^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.
PMID19648921.
S2CID10221927.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4.
doi:
10.1016/0378-1119(94)90802-8.
PMID8125298.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56.
doi:
10.1016/S0378-1119(97)00411-3.
PMID9373149.
Meng Z, Lou Z, Liu Z, Li M, Zhao X, Bartlam M, Rao Z (June 2006). "Crystal structure of human pyrroline-5-carboxylate reductase". Journal of Molecular Biology. 359 (5): 1364–77.
doi:
10.1016/j.jmb.2006.04.053.
PMID16730026.
External links
PDBe-KB provides an overview of all the structure information available in the PDB for Human Pyrroline-5-carboxylate reductase 1, mitochondrial (PYCR1)