پروتئین متصلشونده به E3 (انگلیسی: E3 binding protein) که با نام پروتئین پیرووات دهیدروژناز، جزء ساختمانی X، میتوکندریایی هم شناخته میشود یک پروتئین است که در انسان توسط ژن «PDHX» کُدگذاری میشود.[۴][۵][۶][۷] این پروتئین بخشی از کمپلکس پیرووات دهیدروژناز است که در یوکاریوتها یافت میشود.
اهمیت بالینی
جهش در ژن «PDHX» سبب بروز یکی از انواع کمبود پیرووات دهیدروژناز میگردد. این پروتئین همچنین یک آنتیژن ضعیف برای «آنتیبادیهای ضد میتوکندری» (AMA) محسوب میشود که در ۹۵٪ بیماران مبتلا به «سیروز صفراوی اولیه» (PBC) یافت میشود و در نهایت منجر به سیروز و نارسایی کبدی میگردد.[۴][۸]
منابع
- ↑ ۱٫۰ ۱٫۱ ۱٫۲ GRCm38: Ensembl release 89: ENSMUSG00000010914 - Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ ۴٫۰ ۴٫۱ "Entrez Gene: pyruvate dehydrogenase complex".
- ↑ Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Créau N, Kamoun P, Marsac C (Dec 1997). "Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis". American Journal of Human Genetics. 61 (6): 1318–26. doi:10.1086/301653. PMC 1716072. PMID 9399911.
- ↑ Ling M, McEachern G, Seyda A, MacKay N, Scherer SW, Bratinova S, Beatty B, Giovannucci-Uzielli ML, Robinson BH (Mar 1998). "Detection of a homozygous four base pair deletion in the protein X gene in a case of pyruvate dehydrogenase complex deficiency". Human Molecular Genetics. 7 (3): 501–5. doi:10.1093/hmg/7.3.501. PMID 9467010.
- ↑ Gawin B, Niederführ A, Schumacher N, Hummerich H, Little PF, Gessler M (Nov 1999). "A 7.5 Mb sequence-ready PAC contig and gene expression map of human chromosome 11p13-p14.1". Genome Research. 9 (11): 1074–86. doi:10.1101/gr.9.11.1074. PMC 310838. PMID 10568747.
- ↑ McHugh A, Robe AJ, Palmer JM, Jones DE (May 2006). "PDC-E3BP is not a dominant T-cell autoantigen in primary biliary cirrhosis". Liver International. 26 (4): 406–13. doi:10.1111/j.1478-3231.2006.01253.x. PMID 16629643.
- مشارکتکنندگان ویکیپدیا. «E3 binding protein». در دانشنامهٔ ویکیپدیای انگلیسی، بازبینیشده در ۲۶ اکتبر ۲۰۱۸.
بیشتر بخوانید
- Qiu Y, Guo M, Huang S, Stein R (Jan 2002). "Insulin gene transcription is mediated by interactions between the p300 coactivator and PDX-1, BETA2, and E47". Molecular and Cellular Biology. 22 (2): 412–20. doi:10.1128/mcb.22.2.412-420.2002. PMC 139753. PMID 11756538.
- Brown RM, Head RA, Morris AA, Raiman JA, Walter JH, Whitehouse WP, Brown GK (Sep 2006). "Pyruvate dehydrogenase E3 binding protein (protein X) deficiency". Developmental Medicine and Child Neurology. 48 (9): 756–60. doi:10.1017/S0012162206001617. PMID 16904023.
- Brown RM, Head RA, Brown GK (Feb 2002). "Pyruvate dehydrogenase E3 binding protein deficiency". Human Genetics. 110 (2): 187–91. doi:10.1007/s00439-001-0665-3. PMID 11935326.
- Ciszak EM, Makal A, Hong YS, Vettaikkorumakankauv AK, Korotchkina LG, Patel MS (Jan 2006). "How dihydrolipoamide dehydrogenase-binding protein binds dihydrolipoamide dehydrogenase in the human pyruvate dehydrogenase complex". The Journal of Biological Chemistry. 281 (1): 648–55. doi:10.1074/jbc.M507850200. PMID 16263718.
- Kimura K, Wakamatsu A, Suzuki Y, Ota T, Nishikawa T, Yamashita R, Yamamoto J, Sekine M, Tsuritani K, Wakaguri H, Ishii S, Sugiyama T, Saito K, Isono Y, Irie R, Kushida N, Yoneyama T, Otsuka R, Kanda K, Yokoi T, Kondo H, Wagatsuma M, Murakawa K, Ishida S, Ishibashi T, Takahashi-Fujii A, Tanase T, Nagai K, Kikuchi H, Nakai K, Isogai T, Sugano S (Jan 2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Research. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC 1356129. PMID 16344560.
- Brautigam CA, Wynn RM, Chuang JL, Machius M, Tomchick DR, Chuang DT (Mar 2006). "Structural insight into interactions between dihydrolipoamide dehydrogenase (E3) and E3 binding protein of human pyruvate dehydrogenase complex". Structure. 14 (3): 611–21. doi:10.1016/j.str.2006.01.001. PMC 2879633. PMID 16442803.
- Sugden MC, Holness MJ (May 2003). "Recent advances in mechanisms regulating glucose oxidation at the level of the pyruvate dehydrogenase complex by PDKs". American Journal of Physiology. Endocrinology and Metabolism. 284 (5): E855-62. doi:10.1152/ajpendo.00526.2002. PMID 12676647.
- Schiff M, Miné M, Brivet M, Marsac C, Elmaleh-Bergés M, Evrard P, Ogier de Baulny H (Apr 2006). "Leigh's disease due to a new mutation in the PDHX gene". Annals of Neurology. 59 (4): 709–14. doi:10.1002/ana.20818. PMID 16566017.
- Miné M, Brivet M, Schiff M, de Baulny HO, Chuzhanova N, Marsac C (2006). "A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency". Molecular Genetics and Metabolism. 89 (1–2): 106–10. doi:10.1016/j.ymgme.2006.06.002. PMID 16843025.
- Murray J, Gilkerson R, Capaldi RA (Oct 2002). "Quantitative proteomics: the copy number of pyruvate dehydrogenase is more than 10(2)-fold lower than that of complex III in human mitochondria". FEBS Letters. 529 (2–3): 173–8. doi:10.1016/S0014-5793(02)03278-7. PMID 12372595.
- Hiromasa Y, Roche TE (Sep 2003). "Facilitated interaction between the pyruvate dehydrogenase kinase isoform 2 and the dihydrolipoyl acetyltransferase". The Journal of Biological Chemistry. 278 (36): 33681–93. doi:10.1074/jbc.M212733200. PMID 12816949.
- Hiromasa Y, Fujisawa T, Aso Y, Roche TE (Feb 2004). "Organization of the cores of the mammalian pyruvate dehydrogenase complex formed by E2 and E2 plus the E3-binding protein and their capacities to bind the E1 and E3 components". The Journal of Biological Chemistry. 279 (8): 6921–33. doi:10.1074/jbc.M308172200. PMID 14638692.
- Boulatnikov I, Popov KM (Feb 2003). "Formation of functional heterodimers by isozymes 1 and 2 of pyruvate dehydrogenase kinase". Biochimica et Biophysica Acta. 1645 (2): 183–92. doi:10.1016/S1570-9639(02)00542-3. PMID 12573248.
- McHugh A, Robe AJ, Palmer JM, Jones DE (May 2006). "PDC-E3BP is not a dominant T-cell autoantigen in primary biliary cirrhosis". Liver International. 26 (4): 406–13. doi:10.1111/j.1478-3231.2006.01253.x. PMID 16629643.
- Bottone MG, Soldani C, Fraschini A, Alpini C, Croce AC, Bottiroli G, Pellicciari C (Mar 2007). "Enzyme-assisted photosensitization with rose Bengal acetate induces structural and functional alteration of mitochondria in HeLa cells". Histochemistry and Cell Biology. 127 (3): 263–71. doi:10.1007/s00418-006-0235-9. PMID 17024456.
پیوند به بیرون
- PDHX protein, human در سرعنوانهای موضوعی پزشکی (MeSH) در کتابخانهٔ ملی پزشکی ایالات متحدهٔ آمریکا