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...
6 KB (622 words) - 21:08, 13 October 2022
Petty–Laxova–Weidemann progeroid syndrome POLR3A-related Wiedemann–Rautenstrauch syndrome PYCR1-related Wiedemann–Rautenstrauch-like syndrome Werner syndrome In November...
60 KB (6,292 words) - 21:58, 29 May 2025
caused by mutations in the genes: ELN, ATP6V0A2, ATP7A, FBLN4, FBLN5, and PYCR1. A related neurocutaneous syndrome may be caused by mutations in the gene...
12 KB (1,176 words) - 12:51, 2 September 2024
genes. For example, studies in Xenopus confirmed and elucidated the role of PYCR1 in cutis laxa with progeroid features. Transgenic Xenopus for studying transcriptional...
52 KB (5,807 words) - 13:42, 26 May 2025
Escande-Beillard, N.; Dimopoulou, A.; et al. (2009-08-02). "Mutations in PYCR1 cause cutis laxa with progeroid features". Nature Genetics. 41 (9): 1016–1021...
50 KB (4,290 words) - 05:31, 23 May 2025
study by Reversade et al. (2009) has shown that recessive mutations in PYCR1 or ALD18A1, the genetic sequences that codes for mitochondrial enzymes that...
10 KB (963 words) - 07:19, 28 May 2025
Q8NFP0 13207 PXYLP1 HGNC:26303 Q8TE99 13208 PYCARD HGNC:16608 Q9ULZ3 13209 PYCR1 HGNC:9721 P32322 13210 PYCR2 HGNC:30262 Q96C36 13211 PYCR3 HGNC:25846 Q53H96...
282 KB (17 words) - 09:28, 10 February 2025
by previously reported mutations in the gene encoding PYCR2’s isozyme, PYCR1, suggesting a unique and indispensable role for PYCR2 in the human CNS during...
4 KB (512 words) - 08:49, 6 October 2024
pathway. NOXRED1 has three orthologs. Pyrroline-5-carboxylate reductase 1 (PYCR1), pyrroline-5-carboxylate reductase 2 (PYCR2), and pyrroline-5-carboxylate...
18 KB (1,544 words) - 09:50, 11 August 2024
Pur-beta PWP1 PWP1 PWP1 Homolog, Endonuclein PXDNL PMR1 Peroxidasin Like PYCR1 PYCR1 Pyrroline-5-carboxylate reductase QKI QKI/HQK QKI, KH Domain Containing...
184 KB (12,563 words) - 05:08, 10 March 2025
II; 219200; ATP6V0A2 Cutis laxa, autosomal recessive, type IIB; 612940; PYCR1 Cutis laxa, recessive, type I; 219100; LOX Cylindromatosis, familial; 132700;...
234 KB (18,877 words) - 18:07, 24 March 2025
(MCCC1, MCCC2, GLUD1, HIBADH, CPS1); Amino acid biosynthesis proteins (PYCR1, PYCR2, ALDH18A1, SHMT2, GLS); TCA cycle proteins (IDH3A, IDH2, SUCLG2,...
4 KB (553 words) - 09:45, 17 October 2022
of enzymes, with PDB accession codes 2AHR, 2GER, 2GR9, 2GRA, and 2IZZ. PYCR1, nuclear gene for mitochondrial protein PYCR2, nuclear gene for mitochondrial...
4 KB (321 words) - 01:28, 28 January 2024