BCS1L Gene

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1		Vicky Zhou	+ 851 word(s)	851	2020-12-15 07:45:54

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Zhou, V. BCS1L Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4956 (accessed on 28 September 2026).

Zhou V. BCS1L Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4956. Accessed September 28, 2026.

Zhou, Vicky. "BCS1L Gene" Encyclopedia, https://encyclopedia.pub/entry/4956 (accessed September 28, 2026).

Zhou, V. (2020, December 24). BCS1L Gene. In Encyclopedia. https://encyclopedia.pub/entry/4956

Zhou, Vicky. "BCS1L Gene." Encyclopedia. Web. 24 December, 2020.

BCS1L Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/bcs1l

BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone

genes

References

Bleier L, Dröse S. Superoxide generation by complex III: from mechanisticrationales to functional consequences. Biochim Biophys Acta. 2013Nov-Dec;1827(11-12):1320-31. doi: 10.1016/j.bbabio.2012.12.002.Review.
de Lonlay P, Valnot I, Barrientos A, Gorbatyuk M, Tzagoloff A, Taanman JW,Benayoun E, Chrétien D, Kadhom N, Lombès A, de Baulny HO, Niaudet P, Munnich A,Rustin P, Rötig A. A mutant mitochondrial respiratory chain assembly proteincauses complex III deficiency in patients with tubulopathy, encephalopathy andliver failure. Nat Genet. 2001 Sep;29(1):57-60.
Fernandez-Vizarra E, Bugiani M, Goffrini P, Carrara F, Farina L, Procopio E,Donati A, Uziel G, Ferrero I, Zeviani M. Impaired complex III assembly associatedwith BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum MolGenet. 2007 May 15;16(10):1241-52.
Gil-Borlado MC, González-Hoyuela M, Blázquez A, García-Silva MT, Gabaldón T,Manzanares J, Vara J, Martín MA, Seneca S, Arenas J, Ugalde C. Pathogenicmutations in the 5' untranslated region of BCS1L mRNA in mitochondrial complexIII deficiency. Mitochondrion. 2009 Sep;9(5):299-305. doi:10.1016/j.mito.2009.04.001.
Hinson JT, Fantin VR, Schönberger J, Breivik N, Siem G, McDonough B, Sharma P,Keogh I, Godinho R, Santos F, Esparza A, Nicolau Y, Selvaag E, Cohen BH, HoppelCL, Tranebjaerg L, Eavey RD, Seidman JG, Seidman CE. Missense mutations in theBCS1L gene as a cause of the Björnstad syndrome. N Engl J Med. 2007 Feb22;356(8):809-19.
Morán M, Marín-Buera L, Gil-Borlado MC, Rivera H, Blázquez A, Seneca S,Vázquez-López M, Arenas J, Martín MA, Ugalde C. Cellular pathophysiologicalconsequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.Hum Mutat. 2010 Aug;31(8):930-41. doi: 10.1002/humu.21294.
Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS,Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L.GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76.

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Subjects: Genetics & Heredity

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Update Date: 24 Dec 2020

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