RNA polymerase III subunit B
Senast uppdaterad 18 aug 2020
Uppfyller patientens redaktionella riktlinjer
- Ladda nerLadda ner
- Dela
- Language
- Diskussion
- Ljudversion
- Lägg till i föredragna källor på Google
Den POLR3B gene provides instructions for making one part (subunit) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA in accordance with 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
Den POLR3B gene provides instructions for making one part (subunit) of an enzyme called RNA polymerase III. This enzyme is involved in the production (synthesis) of ribonucleic acid (RNA), a chemical cousin of DNA. The RNA polymerase III enzyme attaches (binds) to DNA and synthesizes RNA in accordance with 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
C128
DNA-directed RNA polymerase III 127.6 kDa polypeptide
DNA-directed RNA polymerase III subunit B
DNA-directed RNA polymerase III subunit RPC2
DNA-directed RNA polymerase III subunit RPC2 isoform 1
DNA-directed RNA polymerase III subunit RPC2 isoform 2
FLJ10388
HLD8
polymerase (RNA) III (DNA directed) polypeptide B
polymerase (RNA) III subunit B
RNA polymerase III subunit C2
RPC2
RPC2_HUMAN
Related patient information and medicines
Patient information leaflet
Antikropps- och antigentester
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
Vaccination mot respiratoriskt syncytialvirus (RSV)
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 is a common virus which causes lung infections (respiratory tract disease). An RSV infection can happen.
Patient information leaflet
6-i-1-vaccin
It is given in one single injection into the thigh from one single syringe. This leaflet explains when this vaccine is given and why. It also explains which components of the 6-in-1 vaccine are given later in the UK immunisation schedule as the 4-in-1, 3-in-1 etc. What is the 6-in-1 vaccine. The 6-in-1 vaccine is a combination vaccine, also known.
Patient information leaflet
Fotledsskada
This leaflet considers ankle sprains and ankle fractures. Ankle pain may arise from many other conditions, including arthritis, gout or Achilles tendinopathy. You can read more about these in the separate leaflets called Arthritis , Gout and Achilles tendinopathy. Anatomy of the ankle As you can see from the picture below, showing bones and.
Patient information leaflet
Glykogenlagringssjukdomar
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. Most are diagnosed in childhood. Symptoms include weakness,.
Medicine leaflet
Inclisiran-injektion
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.
Vidare läsning och referenser
- RNA polymerase III subunit B; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- Tetreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. Am J Hum Genet. 2011 Nov 11;89(5):652-5. doi: 10.1016/j.ajhg.2011.10.006. Epub 2011 Oct 27.
- 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.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Jun 2013 | Ursprungligen publicerad
Delta i konversationen
Dela dina tankar eller erfarenheter med andra i vår patientgemenskaper.
Fråga, dela, anslut.
Bläddra i diskussioner, ställ frågor och dela erfarenheter inom hundratals hälsorelaterade ämnen.
Anmäl dig till Patientens nyhetsbrev
Din veckovisa dos av tydliga, pålitliga hälsoråd - skrivna för att hjälpa dig känna dig informerad, självsäker och i kontroll.
Genom att prenumerera accepterar du våra Sekretesspolicy. Du kan avsluta prenumerationen när som helst. Vi säljer aldrig dina uppgifter.