immunoglobulin mu DNA binding protein 2
Senast uppdaterad 18 aug 2020
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Den IGHMBP2 gene provides instructions for making an enzyme called immunoglobulin mu DNA binding protein 2 (IGHMBP2). This enzyme functions as a helicase, which means that it attaches to particular regions of DNA and temporarily unwinds the two spiral strands of these molecules. When a cell prepares to divide to form two cells, the chromosomes are duplicated (replicated) so that each new cell will get a complete set of chromosomes. The replication process involves unwinding the DNA so that it can be copied. This mechanism is also involved in the production of RNA, a chemical cousin of DNA. Additionally, the IGHMBP2 protein is thought to be involved in the production of proteins from RNA through a process called translation. The IGHMBP2 protein is produced in cells throughout the body.
Normal function
Den IGHMBP2 gene provides instructions for making an enzyme called immunoglobulin mu DNA binding protein 2 (IGHMBP2). This enzyme functions as a helicase, which means that it attaches to particular regions of DNA and temporarily unwinds the two spiral strands of these molecules. When a cell prepares to divide to form two cells, the chromosomes are duplicated (replicated) so that each new cell will get a complete set of chromosomes. The replication process involves unwinding the DNA so that it can be copied. This mechanism is also involved in the production of RNA, a chemical cousin of DNA. Additionally, the IGHMBP2 protein is thought to be involved in the production of proteins from RNA through a process called translation. The IGHMBP2 protein is produced in cells throughout the body.
Conditions referring to this gene or chromosome
Other names
cardiac transcription factor 1
CATF1
FLJ34220
FLJ41171
HCSA
HMN6
immunoglobulin mu binding protein 2
SMARD1
SMBP2_HUMAN
SMUBP2
Related patient information and medicines
Patient information leaflet
Bornholms sjukdom
Bornholm disease is an illness which causes flu-like symptoms, together with pain in the chest or tummy (abdomen). Young babies are most at risk of serious complications. Babies may need preventative treatment (immunoglobulin) to help prevent complications. What is Bornholm disease. The recommended treatment is called immunoglobulin. This is given.
Patient information leaflet
Immunsystemet
This leaflet gives a brief overview of the immunsystem and how it works. A person with a weak immune system might have difficulty fighting off infections. In autoimmune diseases the body is unable to tell what is its own and what is foreign, so it attacks itself. Autoimmune diseases can attack any part of the body - eg, type 1 diabetes.
Patient information leaflet
Toxoplasmos
How is toxoplasmosis diagnosed. If you are suspected of having toxoplasmosis, the first test you are likely to be offered is a blood test. This will show that the levels of proteins (immunoglobulins) produced by the immune system to fight infection will be high. There are various types of immunoglobulins. IgG level rises in the first 1-2 weeks of.
Patient information leaflet
Antikropps- och antigentester
Antibodies are part of the body's defence (immune) system. Antibodies are small proteins that circulate in the bloodstream. They are part of the body's defence (immune) system and are sometimes called immunoglobulins. They are made by a type of white blood cell (a B lymphocyte). Different types of antibodies are made at different times duri... The.
Patient information leaflet
Guillain-Barrés syndrom
For example, you may need help and support with feeding and breathing until the symptoms ease. Some specific treatments that may be given include one or more of the following: Immunoglobulin Immunoglobulin is an antibody that is present in blood and is collected from blood given by blood donors. It is given as an injection directly into a vein. It.
Patient information leaflet
Allergier
Allergier are the body's response to a substance called an allergen. These may be harmless substances for the majority of people, but for some, the person's immune system reacts to the allergen, causing an allergic reaction. A person is exposed to the allergen. Antibodies or immunoglobulins production. When the immune system detects the allergen,.
Vidare läsning och referenser
- immunoglobulin mu DNA binding protein 2; MedlinePlus, National Library of Medicine.
- de Planell-Saguer M, Schroeder DG, Rodicio MC, Cox GA, Mourelatos Z. Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery. Hum Mol Genet. 2009 Jun 15;18(12):2115-26. doi: 10.1093/hmg/ddp134. Epub 2009 Mar 19.
- Guenther UP, Handoko L, Laggerbauer B, Jablonka S, Chari A, Alzheimer M, Ohmer J, Plottner O, Gehring N, Sickmann A, von Au K, Schuelke M, Fischer U. IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1). Hum Mol Genet. 2009 Apr 1;18(7):1288-300. doi: 10.1093/hmg/ddp028. Epub 2009 Jan 20.
- Guenther UP, Handoko L, Varon R, Stephani U, Tsao CY, Mendell JR, Lutzkendorf S, Hubner C, von Au K, Jablonka S, Dittmar G, Heinemann U, Schuetz A, Schuelke M. Clinical variability in distal spinal muscular atrophy type 1 (DSMA1): determination of steady-state IGHMBP2 protein levels in five patients with infantile and juvenile disease. J Mol Med (Berl). 2009 Jan;87(1):31-41. doi: 10.1007/s00109-008-0402-7. Epub 2008 Sep 18.
- Guenther UP, Varon R, Schlicke M, Dutrannoy V, Volk A, Hubner C, von Au K, Schuelke M. Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysis. Hum Mutat. 2007 Aug;28(8):808-15. doi: 10.1002/humu.20525.
- Kaindl AM, Guenther UP, Rudnik-Schoneborn S, Varon R, Zerres K, Schuelke M, Hubner C, von Au K. Spinal muscular atrophy with respiratory distress type 1 (SMARD1). J Child Neurol. 2008 Feb;23(2):199-204. doi: 10.1177/0883073807310989.
Artikelhistorik
Artikeln finns också på Engelska, Tyska, Spanska, Franska, Italienska, Portugisiska, Hindi, Hebreiska, Arabiska, och Svenska.
18 aug 2020 | Senaste versionen
1 Jan 2013 | Ursprungligen publicerad
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