actin gamma 1
अंतिम अद्यतन 18 Aug 2020
मरीज की संपादकीय दिशानिर्देशों
- डाउनलोडडाउनलोड
- साझा करें
- Language
- चर्चा
- ऑडियो संस्करण
- Google पर पसंदीदा स्रोतों में जोड़ें
यह ACTG1 gene provides instructions for making a protein called gamma (γ)-actin, which is part of the actin protein family. Proteins in this family are organized into a network of fibers called the actin cytoskeleton, which makes up the structural framework inside cells. There are six types of actin; four are present only in muscle cells, where they are involved in the tensing of muscle fibers (muscle contraction). The other two actin proteins, γ-actin and beta (β)-actin (produced from the ACTB gene), are found in cells throughout the body. These proteins play important roles in determining cell shape and controlling cell movement (motility).
Normal function
यह ACTG1 gene provides instructions for making a protein called gamma (γ)-actin, which is part of the actin protein family. Proteins in this family are organized into a network of fibers called the actin cytoskeleton, which makes up the structural framework inside cells. There are six types of actin; four are present only in muscle cells, where they are involved in the tensing of muscle fibers (muscle contraction). The other two actin proteins, γ-actin and beta (β)-actin (produced from the ACTB gene), are found in cells throughout the body. These proteins play important roles in determining cell shape and controlling cell movement (motility).
γ-actin is particularly abundant in certain cells in the intestines and the inner ear. Within the inner ear, this protein is found in specialized cells called hair cells, which are essential for normal hearing.
Conditions referring to this gene or chromosome
Other names
ACT
ACTG
ACTG_HUMAN
actin, cytoplasmic 2
actin, gamma 1
actin-like protein
cytoskeletal gamma-actin
deafness, autosomal dominant 20
deafness, autosomal dominant 26
DFNA20
DFNA26
gamma-actin
Related patient information and medicines
Patient information leaflet
दूरस्थ स्थानों की यात्रा
The risk of malaria can be reduced by taking. Yellow fever vaccination and certificate A travel clinic can advise you whether you need yellow fever vaccination. Self-treatment is a last resort as it is very difficult for anyone to make treatment decisions about themselves. Reference book Pocket First Aid and Wilderness Medicine: Drs Jim Duff and.
Patient information leaflet
शिन स्प्लिंट्स
This can help to differentiate between shin splints and a stress fracture. A bone scan involves an injection of a very small amount of radioactive material, usually into a vein in your arm. A gamma camera is then used that can detect the radiation emitted by the injected material. This can show up a stress fracture or changes that can occur in the.
Patient information leaflet
तपेदिक
How do you catch tuberculosis. Most ca... A sample of fluid from the stomach (gastric washings) may then be used instead. Other tests Other possible tests for suspected TB are: A रक्त परीक्षण called an interferon gamma test. This can be helpful if the tuberculin skin test result was unclear. A 'screening test' for TB means testing someone who is.
Patient information leaflet
त्राइजेमिनल न्यूराल्जिया
Trigeminal neuralgia is defined as nerve pain (neuralgia) involving one or more of the branches of the trigeminal nerves. The trigem... For example, one procedure is gamma knife surgery (called stereotactic radiosurgery). Stereotactic radiosurgery for trigeminal neuralgia This form of surgery is sometimes known as 'gamma knife' surgery (see.
Patient information leaflet
मधुमेह संबंधी गुर्दा रोग
में diabetic kidney disease, यह filters of the kidneys, यह glomeruli, become damaged. Because of this the kidneys 'leak' abnormal amounts of protein from the blood into the urine. The main protein that leaks out from the damaged kidneys is called albumin. In normal healthy kidneys only a tiny amount of albumin is found in the urine. A raised.
Patient information leaflet
मनोरंजनात्मक दवाएं
How many people use recreational drugs. The government obtains reports on recreational drug use in the UK every year. These are published regularly. Sometimes the gas at the back of your throat can make it swell up so you can'... Recreational drugs and the law The Misuse of Drugs Act 1971 The Misuse of Drugs Act was a law passed in 1971 in the UK.
अधिक पठन और संदर्भ
- actin gamma 1; MedlinePlus, National Library of Medicine.
- Bryan KE, Wen KK, Zhu M, Rendtorff ND, Feldkamp M, Tranebjaerg L, Friderici KH, Rubenstein PA. Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. J Biol Chem. 2006 Jul 21;281(29):20129-39. doi: 10.1074/jbc.M601514200. Epub 2006 May 10.
- Dugina V, Zwaenepoel I, Gabbiani G, Clement S, Chaponnier C. Beta and gamma-cytoplasmic actins display distinct distribution and functional diversity. J Cell Sci. 2009 Aug 15;122(Pt 16):2980-8. doi: 10.1242/jcs.041970. Epub 2009 Jul 28.
- Rendtorff ND, Zhu M, Fagerheim T, Antal TL, Jones M, Teslovich TM, Gillanders EM, Barmada M, Teig E, Trent JM, Friderici KH, Stephan DA, Tranebjaerg L. A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. Eur J Hum Genet. 2006 Oct;14(10):1097-105. doi: 10.1038/sj.ejhg.5201670. Epub 2006 Jun 14.
- Riviere JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.
- van Wijk E, Krieger E, Kemperman MH, De Leenheer EM, Huygen PL, Cremers CW, Cremers FP, Kremer H. A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). J Med Genet. 2003 Dec;40(12):879-84. doi: 10.1136/jmg.40.12.879.
- Zhu M, Yang T, Wei S, DeWan AT, Morell RJ, Elfenbein JL, Fisher RA, Leal SM, Smith RJ, Friderici KH. Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). Am J Hum Genet. 2003 Nov;73(5):1082-91. doi: 10.1086/379286. Epub 2003 Sep 16.
बातचीत में शामिल हों
हमारे में दूसरों के साथ अपने विचार या अनुभव साझा करें रोगी समुदायों.
पूछें, साझा करें, जुड़ें।.
चर्चाओं को ब्राउज़ करें, प्रश्न पूछें, और सैकड़ों स्वास्थ्य विषयों पर अनुभव साझा करें।.
पेशेंट न्यूज़लेटर के लिए साइन अप करें
आपकी साप्ताहिक खुराक स्पष्ट, विश्वसनीय स्वास्थ्य सलाह की - जो आपको सूचित, आत्मविश्वासी और नियंत्रण में महसूस करने में मदद करने के लिए लिखी गई है।.
सदस्यता लेने पर आप हमारी स्वीकार करते हैं गोपनीयता नीति. आप किसी भी समय सदस्यता समाप्त कर सकते हैं। हम कभी भी आपका डेटा नहीं बेचते।.