SURF1 cytochrome c oxidase assembly factor
آخر تحديث 1 Jul 2022
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ال SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. Oxidative phosphorylation involves a series of reactions that take place through several different protein complexes. The SURF1 protein aids in the correct assembly of one of the protein complexes, or enzymes, involved in oxidative phosphorylation called complex IV.
Normal function
ال SURF1 gene provides instructions for making a protein that is important in oxidative phosphorylation, the process by which the energy from food is converted into a form cells can use. Oxidative phosphorylation involves a series of reactions that take place through several different protein complexes. The SURF1 protein aids in the correct assembly of one of the protein complexes, or enzymes, involved in oxidative phosphorylation called complex IV.
Complex IV, also known as cytochrome الطبية oxidase or COX, accepts negatively charged particles (electrons) from earlier steps in oxidative phosphorylation. In addition, the enzyme accepts positively charged particles (protons) from inside the mitochondrion. Using the electrons and protons, the COX enzyme performs a chemical reaction that converts oxygen to water. The enzyme also transfers additional protons across the specialized membrane inside the mitochondrion. These processes create energy that is used to generate adenosine triphosphate (ATP), the cell's main energy source.
Conditions referring to this gene or chromosome
Other names
SURF-1
SURF1_HUMAN
surfeit 1
surfeit locus protein 1
Related patient information and medicines
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تخثر الدم
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هل يمكنني تناول الكوهوش الأسود والجلوكوزامين معًا؟
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النوبة القلبية
ت نوبة قلبية (احتشاء عضلة القلب) is usually caused by a blood clot, which stops the blood flowing to a part of your heart muscle. You should call for an ambulance immediately if you develop severe chest pain. If someone has a heart attack, treatment with a clot-busting medicine or an emergency procedure to restore the blood flow through the.
قراءة إضافية ومراجع
- SURF1 cytochrome c oxidase assembly factor; MedlinePlus, National Library of Medicine.
- Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008 Oct;39(4):223-35. doi: 10.1016/j.pediatrneurol.2008.07.013.
- Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ. SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat. 2012 Aug;33(8):1192-200. doi: 10.1002/humu.22095. Epub 2012 Apr 30.
- Pecina P, Capkova M, Chowdhury SK, Drahota Z, Dubot A, Vojtiskova A, Hansikova H, Houst'kova H, Zeman J, Godinot C, Houstek J. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. doi: 10.1016/s0925-4439(03)00127-3.
- Pequignot MO, Dey R, Zeviani M, Tiranti V, Godinot C, Poyau A, Sue C, Di Mauro S, Abitbol M, Marsac C. Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency. Hum Mutat. 2001 May;17(5):374-81. doi: 10.1002/humu.1112.
- Yao J, Shoubridge EA. Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency. Hum Mol Genet. 1999 Dec;8(13):2541-9. doi: 10.1093/hmg/8.13.2541.
تاريخ المقال
المقال متاح أيضًا باللغة الإنجليزية, الألمانية, إسبانية, الفرنسية, إيطالي, البرتغالية, الهندية, العبرية, العربية ,، و السويدية.
1 Jul 2022 | أحدث إصدار
1 May 2016 | نُشر في الأصل
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