• Thumbnail for PYCR1
    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
  • Thumbnail for Progeria
    Petty–Laxova–Weidemann progeroid syndrome POLR3A-related Wiedemann–Rautenstrauch syndrome PYCR1-related Wiedemann–Rautenstrauch-like syndrome Werner syndrome In November...
    60 KB (6,284 words) - 06:42, 25 May 2025
  • Thumbnail for Cutis laxa
    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
  • Thumbnail for Xenopus
    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
  • Thumbnail for De Barsy syndrome
    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
  • 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
  • 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
  • Thumbnail for NOXRED1
    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
  • Thumbnail for PYCR2
    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
  • Thumbnail for Stress granule
    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
  • Thumbnail for FASTKD3
    (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
  • 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
  • Thumbnail for Pyrroline-5-carboxylate reductase
    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