transmembrane protein 70
Última actualización 18 Aug 2020
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El TMEM70 gene provides instructions for making a protein called transmembrane protein 70. This protein is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Transmembrane protein 70 is thought to play an important role in assembling and stabilizing a group of proteins called complex V. Complex V is the last of five complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy. Complex V is involved in the final step of oxidative phosphorylation. Specifically, one segment of complex V allows positively charged particles, called protons, to flow across a specialized membrane inside mitochondria. Another segment of complex V uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to adenosine triphosphate (ATP), which is used by the cell as energy.
Normal function
El TMEM70 gene provides instructions for making a protein called transmembrane protein 70. This protein is found in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Transmembrane protein 70 is thought to play an important role in assembling and stabilizing a group of proteins called complex V. Complex V is the last of five complexes that carry out a multistep process called oxidative phosphorylation, through which cells derive much of their energy. Complex V is involved in the final step of oxidative phosphorylation. Specifically, one segment of complex V allows positively charged particles, called protons, to flow across a specialized membrane inside mitochondria. Another segment of complex V uses the energy created by this proton flow to convert a molecule called adenosine diphosphate (ADP) to adenosine triphosphate (ATP), which is used by the cell as energy.
Transmembrane protein 70 is also thought to be involved in the assembly of complex I, which is the first mitochondrial complex involved in oxidative phosphorylation.
Conditions referring to this gene or chromosome
Otros nombres
FLJ20533
MC5DN2
transmembrane protein 70, mitochondrial isoform a
transmembrane protein 70, mitochondrial isoform b
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Lecturas adicionales y referencias
- transmembrane protein 70; MedlinePlus, National Library of Medicine.
- Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M. Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy. JIMD Rep. 2015;15:71-8. doi: 10.1007/8904_2014_300. Epub 2014 Apr 17.
- Guerrero-Castillo S, Baertling F, Kownatzki D, Wessels HJ, Arnold S, Brandt U, Nijtmans L. The Assembly Pathway of Mitochondrial Respiratory Chain Complex I. Cell Metab. 2017 Jan 10;25(1):128-139. doi: 10.1016/j.cmet.2016.09.002. Epub 2016 Oct 6.
- Hejzlarova K, Mracek T, Vrbacky M, Kaplanova V, Karbanova V, Nuskova H, Pecina P, Houstek J. Nuclear genetic defects of mitochondrial ATP synthase. Physiol Res. 2014;63(Suppl 1):S57-71. doi: 10.33549/physiolres.932643.
- Magner M, Dvorakova V, Tesarova M, Mazurova S, Hansikova H, Zahorec M, Brennerova K, Bzduch V, Spiegel R, Horovitz Y, Mandel H, Eminoglu FT, Mayr JA, Koch J, Martinelli D, Bertini E, Konstantopoulou V, Smet J, Rahman S, Broomfield A, Stojanovic V, Dionisi-Vici C, van Coster R, Morava E, Sperl W, Zeman J, Honzik T. TMEM70 deficiency: long-term outcome of 48 patients. J Inherit Metab Dis. 2015 May;38(3):417-26. doi: 10.1007/s10545-014-9774-8. Epub 2014 Oct 18.
- Spiegel R, Khayat M, Shalev SA, Horovitz Y, Mandel H, Hershkovitz E, Barghuti F, Shaag A, Saada A, Korman SH, Elpeleg O, Yatsiv I. TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome. J Med Genet. 2011 Mar;48(3):177-82. doi: 10.1136/jmg.2010.084608. Epub 2010 Dec 8.
- Torraco A, Verrigni D, Rizza T, Meschini MC, Vazquez-Memije ME, Martinelli D, Bianchi M, Piemonte F, Dionisi-Vici C, Santorelli FM, Bertini E, Carrozzo R. TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. Neurogenetics. 2012 Nov;13(4):375-86. doi: 10.1007/s10048-012-0343-8. Epub 2012 Sep 18.
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