Location of the MT-CYB gene in the human mitochondrial genome (coral box).
The MT-CYB gene is located on the p arm of mitochondrial DNA in position 12 and spans 1,140 base pairs.[5] The gene produces a 42.7 kDa protein named cytochrome b composed of 380 amino acids.[6][7]Cytochrome b is an integral membrane protein with hydrophobic properties. The catalytic core of the enzyme is composed of eight transmembrane helices, the iron-sulfur protein, and cytochrome c1.[8]Cytochrome b is a fundamental component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c.[9] The structure of the complex is a symmetric homodimer. It is composed of eleven structural subunits, including one mitochondrial genome encoded cytochrome b and ten other nucleus encoded subunits. These subunits include three respiratory subunits (MT-CYB, CYC1 and UQCRFS1), two core proteins (UQCRC1 and UQCRC2) and six low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of UQCRFS1). The total molecular mass of the complex is about 450 kDa.[10][9]
Yamasoba T, Goto Yi, Oka Y, Nishino I, Tsukuda K, Nonaka I (Jun 2002). "Atypical muscle pathology and a survey of cis-mutations in deaf patients harboring a 1555 A-to-G point mutation in the mitochondrial ribosomal RNA gene". Neuromuscular Disorders. 12 (5): 506–12. doi:10.1016/S0960-8966(01)00329-7. PMID12031626. S2CID37695849.
Mancuso M, Filosto M, Stevens JC, Patterson M, Shanske S, Krishna S, DiMauro S (May 2003). "Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene". Journal of the Neurological Sciences. 209 (1–2): 61–3. doi:10.1016/S0022-510X(02)00462-8. PMID12686403. S2CID31605529.
Kong QP, Yao YG, Liu M, Shen SP, Chen C, Zhu CL, Palanichamy MG, Zhang YP (Oct 2003). "Mitochondrial DNA sequence polymorphisms of five ethnic populations from northern China". Human Genetics. 113 (5): 391–405. doi:10.1007/s00439-003-1004-7. PMID12938036. S2CID6370358.
van Holst Pellekaan SM, Ingman M, Roberts-Thomson J, Harding RM (Oct 2006). "Mitochondrial genomics identifies major haplogroups in Aboriginal Australians". American Journal of Physical Anthropology. 131 (2): 282–94. doi:10.1002/ajpa.20426. PMID16596590.
Wikiwand in your browser!
Seamless Wikipedia browsing. On steroids.
Every time you click a link to Wikipedia, Wiktionary or Wikiquote in your browser's search results, it will show the modern Wikiwand interface.
Wikiwand extension is a five stars, simple, with minimum permission required to keep your browsing private, safe and transparent.