RNA polymerase III subunit A
Última atualização 12 Nov 2024
Atende aos diretrizes editoriais
- BaixarBaixar
- Compartilhar
- Language
- Discussão
- Versão em Áudio
- Adicionar às fontes preferidas no Google
The POLR3A gene provides instructions for making the largest piece (subunit) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of RNA, a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA molecules using the instructions carried by the DNA, a process called transcription. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble protein building blocks (amino acids) into working proteins; this process is essential for the normal functioning and survival of cells.
Normal function
The POLR3A gene provides instructions for making the largest piece (subunit) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of RNA, a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA molecules using the instructions carried by the DNA, a process called transcription. RNA polymerase III helps synthesize several forms of RNA, including ribosomal RNA (rRNA) and transfer RNA (tRNA). Molecules of rRNA and tRNA assemble protein building blocks (amino acids) into working proteins; this process is essential for the normal functioning and survival of cells.
Conditions referring to this gene or chromosome
Other names
DNA-directed RNA polymerase III largest subunit
DNA-directed RNA polymerase III subunit A
polymerase (RNA) III subunit A
RNA polymerase III 155 kDa subunit
RPC1
RPC155
RPC1_HUMAN
Related patient information and medicines
Patient information leaflet
Testes de anticorpos e antígenos
False positive antigen tests (where the test is positive but the person doesn't actually have the infection) are unusual - false negative tests are more common, particularly if the swab-taking technique was not very good. Some tests can be done at home, for example a lateral flow test for COVID-19, whereas others need to be sent off to a lab, such.
%20vaccination/og.png)
Patient information leaflet
Vacinação contra o vírus sincicial respiratório (VSR)
The RSV vaccine helps protect babies and older people from the common infectious disease of the airways and lungs. Here we have information about the respiratory syncytial virus (RSV) vaccine and who should get it. What is the RSV vaccine. RSV infection also causes more severe lung infections in older people, and often causes them to be admitted.
Patient information leaflet
Distúrbios de armazenamento de glicogênio
Glycogen storage disorders are a group of inherited diseases. They result from a problem with one of the proteins (known as enzymes) involved in the conversion of glucose to glycogen, or the breakdown of glycogen back into glucose. They mostly tend to affect your liver and muscles. Newer treatment possibilities provide hope for an improved outlook.
Patient information leaflet
Negligência médica
If this happens, they may wish to make a complaint. If sub-standard care has led to avoidable harm, they may also wish to make a claim for compensation for medical negligence. Raising concerns about care Most people, when they become unwell, are treated with very good care and are happy with their treatment. Consider making a legal claim for.
Patient information leaflet
Strep A
Strep A, or Group A streptococcus, is a common type of bacteria, which has been recognised as a causam de infections for many years. Most Group A streptococcus infections are mild, but in rare cases, these can cause serious illness and even death. What is strep A. Strep A, or Group A streptococcus (GAS), is a type of bacteria, with the scientific.
Medicine leaflet
Injeção de Inclisiran
Inclisiran injections are usually given by a healthcare professional. They are injected into the skin of your tummy (abdomen), upper arm or thigh. Higher levels of LDL cholesterol in your blood cause the increased risk of cardiovascular diseaseInclisiran (Leqvio®) injections lower the level of LDL cholesterol in your blood. Inclisiran is actually.
Leitura adicional e referências
- RNA polymerase III subunit A; MedlinePlus, National Library of Medicine.
- Bernard G, Chouery E, Putorti ML, Tetreault M, Takanohashi A, Carosso G, Clement I, Boespflug-Tanguy O, Rodriguez D, Delague V, Abou Ghoch J, Jalkh N, Dorboz I, Fribourg S, Teichmann M, Megarbane A, Schiffmann R, Vanderver A, Brais B. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Sep 9;89(3):415-23. doi: 10.1016/j.ajhg.2011.07.014.
- Daoud H, Tetreault M, Gibson W, Guerrero K, Cohen A, Gburek-Augustat J, Synofzik M, Brais B, Stevens CA, Sanchez-Carpintero R, Goizet C, Naidu S, Vanderver A, Bernard G. Mutations in POLR3A and POLR3B are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism. J Med Genet. 2013 Mar;50(3):194-7. doi: 10.1136/jmedgenet-2012-101357. Epub 2013 Jan 25.
- Jay AM, Conway RL, Thiffault I, Saunders C, Farrow E, Adams J, Toriello HV. Neonatal progeriod syndrome associated with biallelic truncating variants in POLR3A. Am J Med Genet A. 2016 Dec;170(12):3343-3346. doi: 10.1002/ajmg.a.37960. Epub 2016 Sep 9.
- Minnerop M, Kurzwelly D, Wagner H, Soehn AS, Reichbauer J, Tao F, Rattay TW, Peitz M, Rehbach K, Giorgetti A, Pyle A, Thiele H, Altmuller J, Timmann D, Karaca I, Lennarz M, Baets J, Hengel H, Synofzik M, Atasu B, Feely S, Kennerson M, Stendel C, Lindig T, Gonzalez MA, Stirnberg R, Sturm M, Roeske S, Jung J, Bauer P, Lohmann E, Herms S, Heilmann-Heimbach S, Nicholson G, Mahanjah M, Sharkia R, Carloni P, Brustle O, Klopstock T, Mathews KD, Shy ME, de Jonghe P, Chinnery PF, Horvath R, Kohlhase J, Schmitt I, Wolf M, Greschus S, Amunts K, Maier W, Schols L, Nurnberg P, Zuchner S, Klockgether T, Ramirez A, Schule R. Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia. Brain. 2017 Jun 1;140(6):1561-1578. doi: 10.1093/brain/awx095.
- Paolacci S, Li Y, Agolini E, Bellacchio E, Arboleda-Bustos CE, Carrero D, Bertola D, Al-Gazali L, Alders M, Altmuller J, Arboleda G, Beleggia F, Bruselles A, Ciolfi A, Gillessen-Kaesbach G, Krieg T, Mohammed S, Muller C, Novelli A, Ortega J, Sandoval A, Velasco G, Yigit G, Arboleda H, Lopez-Otin C, Wollnik B, Tartaglia M, Hennekam RC. Specific combinations of biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome. J Med Genet. 2018 Dec;55(12):837-846. doi: 10.1136/jmedgenet-2018-105528. Epub 2018 Oct 15.
- Perrier S, Gauquelin L, Wambach JA, Bernard G. Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. Am J Med Genet A. 2022 Feb;188(2):708-712. doi: 10.1002/ajmg.a.62553. Epub 2021 Nov 12.
- Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Arch Neurol. 2012 Jul;69(7):920-3. doi: 10.1001/archneurol.2011.1963.
- Saitsu H, Osaka H, Sasaki M, Takanashi J, Hamada K, Yamashita A, Shibayama H, Shiina M, Kondo Y, Nishiyama K, Tsurusaki Y, Miyake N, Doi H, Ogata K, Inoue K, Matsumoto N. Mutations in POLR3A and POLR3B encoding RNA Polymerase III subunits cause an autosomal-recessive hypomyelinating leukoencephalopathy. Am J Hum Genet. 2011 Nov 11;89(5):644-51. doi: 10.1016/j.ajhg.2011.10.003. Epub 2011 Oct 27.
- Terao Y, Saitsu H, Segawa M, Kondo Y, Sakamoto K, Matsumoto N, Tsuji S, Nomura Y. Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III. J Neurol Sci. 2012 Sep 15;320(1-2):102-5. doi: 10.1016/j.jns.2012.07.005. Epub 2012 Jul 21.
- Vanderver A, Tonduti D, Bernard G, Lai J, Rossi C, Carosso G, Quezado M, Wong K, Schiffmann R. More than hypomyelination in Pol-III disorder. J Neuropathol Exp Neurol. 2013 Jan;72(1):67-75. doi: 10.1097/NEN.0b013e31827c99d2.
Participe da conversa
Compartilhe seus pensamentos ou experiências com outros em nosso comunidades de pacientes.
Pergunte, compartilhe, conecte-se.
Navegue por discussões, faça perguntas e compartilhe experiências em centenas de tópicos de saúde.
Inscreva-se no boletim informativo do Patient
Sua dose semanal de conselhos de saúde claros e confiáveis - escritos para ajudá-lo a se sentir informado, confiante e no controle.
Ao se inscrever, você aceita nossos Política de Privacidade. Você pode cancelar a inscrição a qualquer momento. Nunca vendemos seus dados.