transmembrane protein 70
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L 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
L 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
Altri nomi
FLJ20533
MC5DN2
transmembrane protein 70, mitochondrial isoform a
transmembrane protein 70, mitochondrial isoform b
Related patient information and medicines
Patient information leaflet
Alimentazione sana
Food groups Your body needs energy to work normally and keep you alive. For this reason, the UK Government's Scientific Advisory Committee on Nutrition (SACN) recommend that your intake of red and processed meat should be no more than 70 g/day. A 2019 review by the SACN (The Scientific Advisory Committee on Nutrition) determined that reducing your.
/og.png)
Patient information leaflet
Dieta paleolitica (dieta paleo)
Reliable evidenze supporting the long-term health benefits of a Paleolithic die. What is The Paleo Diet. The Paleolithic diet... Recent research suggested that risk factors for type 2 diabetes and cardiovascular disease reduced on a Paleolithic diet, but the authors felt more work was needed in this area. Paleo Diet food list There are seven.
Patient information leaflet
Geni BRCA
There are a few known gene changes (mutations) that can increase the risk of certain cancers, and tests available for some of them, including BRCA1 e BRCA2 gene mutations. The BRCA1 and BRCA2 genes normally protect against certain cancers, particularly breast cancer and ovarian cancer. If there is a mutation in one of these genes then this may.
Patient information leaflet
Dieta nella malattia renale cronica
However, when the kidneys are not working well (like in advanced CKD), potassium levels can become dangerously high. Dangerous heart rhythms may result, which can lead to death. You only need to follow a low potassium diet if you've been advised to by your healthcare team. Most people with early-moderate CKD (stages 1 to 3) don't need to limit.
Patient information leaflet
Malattia renale policistica
There is no cure for polycystic kidney... However, the severity of polycystic kidney disease varies from person to person. Although people with PKD often develop kidney failure (end-stage kidney disease) between ages 55 to 65 years, some people with PKD have a mild disease and do not progress to end-stage kidney disease. Note : the rest of this.
Patient information leaflet
Arterite a cellule giganti
What is giant cell arteritis. Giant cell arteritis (GCA), also known as temporal arteritis, is a condition which causes inflammation on the inside of some blood vessels (arteries). It is called 'giant cell' because abnormal large cells develop in the wall of these inflamed arteries. Who is likely to develop giant cell arteritis (temporal.
Ulteriori letture e riferimenti
- 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.
Partecipa alla conversazione
Condividi i tuoi pensieri o esperienze con gli altri nel nostro comunità di pazienti.
Chiedi, condividi, connettiti.
Esplora le discussioni, fai domande e condividi esperienze su centinaia di argomenti di salute.
Iscriviti alla newsletter di Patient
La tua dose settimanale di consigli sulla salute chiari e affidabili - scritti per aiutarti a sentirti informato, sicuro e in controllo.
Abbonandoti accetti i nostri Informativa sulla Privacy. Puoi annullare l'iscrizione in qualsiasi momento. Non vendiamo mai i tuoi dati.