ataxin 2
Ultimo aggiornamento 18 Ago 2020
Rispetta le linee guida editoriali
- ScaricaScarica
- Condividi
- Language
- Discussione
- Versione audio
- Aggiungi alle fonti preferite su Google
L ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm) and seems to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the translation of genetic information to produce proteins.
Normal function
L ATXN2 gene provides instructions for making a protein called ataxin-2. This protein is found throughout the body, but its function is unknown. Ataxin-2 is found in the fluid inside cells (cytoplasm) and seems to interact with a cell structure called the endoplasmic reticulum. The endoplasmic reticulum is involved in protein production, processing, and transport. Researchers believe that ataxin-2 may be involved in processing RNA, a chemical cousin of DNA. Ataxin-2 is also thought to play a role in the translation of genetic information to produce proteins.
One region of the ATXN2 gene contains a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated approximately 22 times within the gene.
Conditions referring to this gene or chromosome
Altri nomi
ataxin-2
ATX2
ATX2_HUMAN
SCA2
Related patient information and medicines
Patient information leaflet
Febbre ghiandolare
Glandular fever (also known as infectious mononucleosis) is a viral infection that most often affects teenagers and young adults. Although it can make some people feel quite ill, full recovery is usual. What is glandular fever. Febbre ghiandolare is a viral un’infezione, mostly caused by the Virus di Epstein-Barr. The virus can be passed from person to.
Patient information leaflet
Diabete
There are two main types of diabetes - type 1 diabete e type 2 diabetes. Type 1 usually first develops in children or in young adults. Maturity-onset diabetes of the young (MODY): this includes several forms of diabetes which are caused by genetic defects of the cells in the pancreas that make insulin. Other genetic diseases that can cause.
Patient information leaflet
Unità di punta delle dita per steroidi topici
Topical steroids are used for various skin conditions. The amount of topical steroid that you should apply is commonly measured by fingertip units. Wha... Steroidi topici sono creams, ointments and lotions which contain steroid drugs. Topical steroids work by reducing inflammation in the skin. They are used for various skin conditions, such as.
Patient information leaflet
Posso prendere Tetraciclina e Calcio insieme?
Taking calcium at the same time as tetracycline can stop the antibiotic from working properly. Calcium is a multivalent cation that undergoes 'chelation' with tetracycline. They bind together t... Using other medicines Taking multiple medicines. Our Medicines Interaction Checker helps you check whether your prescriptions, over-the-counter.
Patient information leaflet
Posso prendere integratori di ferro e Sedoxil insieme?
Taking iron supplements at the same time as Sedoxil (mexazolam) may reduce how much of the farmaci your body absorbs. Our Controllo Interazioni Farmaci helps you check whether your prescriptions, over-the-counter medicines, and supplements are safe to take together. ...macist, or another qualified healthcare professional before making.
Patient information leaflet
Tonsillite
Tonsillitis is an infection of the tonsils that causes them to become swollen and sore.
Ulteriori letture e riferimenti
- ataxin 2; MedlinePlus, National Library of Medicine.
- Lastres-Becker I, Rub U, Auburger G. Spinocerebellar ataxia 2 (SCA2). Cerebellum. 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y.
- van de Loo S, Eich F, Nonis D, Auburger G, Nowock J. Ataxin-2 associates with rough endoplasmic reticulum. Exp Neurol. 2009 Jan;215(1):110-8. doi: 10.1016/j.expneurol.2008.09.020. Epub 2008 Oct 11.
- Velazquez Perez L, Cruz GS, Santos Falcon N, Enrique Almaguer Mederos L, Escalona Batallan K, Rodriguez Labrada R, Paneque Herrera M, Laffita Mesa JM, Rodriguez Diaz JC, Rodriguez RA, Gonzalez Zaldivar Y, Coello Almarales D, Almaguer Gotay D, Jorge Cedeno H. Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009 Apr 24;454(2):157-60. doi: 10.1016/j.neulet.2009.03.015. Epub 2009 Mar 11.
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.