protein kinase AMP-activated non-catalytic subunit gamma 2
Última actualización 18 Aug 2020
Cumple con las directrices editoriales
- DescargarDescargar
- Compartir
- Language
- Discusión
- Versión en audio
- Agregar a fuentes preferidas en Google
El PRKAG2 gene provides instructions for making one part (the gamma-2 subunit) of a larger enzyme called AMP-activated protein kinase (AMPK). This enzyme helps sense and respond to energy demands within cells. It is active in many different tissues, including heart (cardiac) muscle and muscles used for movement (skeletal muscles). AMP-activated protein kinase is likely involved in the development of the heart before birth, although its role in this process is unknown.
Normal function
El PRKAG2 gene provides instructions for making one part (the gamma-2 subunit) of a larger enzyme called AMP-activated protein kinase (AMPK). This enzyme helps sense and respond to energy demands within cells. It is active in many different tissues, including heart (cardiac) muscle and muscles used for movement (skeletal muscles). AMP-activated protein kinase is likely involved in the development of the heart before birth, although its role in this process is unknown.
AMP-activated protein kinase regulates chemical pathways involving the cell's main energy source, a molecule called adenosine triphosphate (ATP). The breakdown of ATP releases energy to drive many types of chemical reactions. AMP-activated protein kinase is activated during times of cellular stress (such as low oxygen levels or muscle exercise), when ATP is broken down rapidly to produce energy. If ATP levels become too low, the enzyme restores the balance of energy by limiting chemical reactions that require ATP and stimulating pathways that generate ATP.
Studies suggest that AMP-activated protein kinase may play a role in controlling the activity of other genes, although many of these genes have not been identified. The enzyme may also regulate the activity of certain ion channels in the heart. These channels, which transport positively charged atoms (ions) into and out of heart muscle cells, play critical roles in maintaining the heart's normal rhythm.
Conditions referring to this gene or chromosome
Otros nombres
AAKG
AAKG2
AAKG2_HUMAN
AMP-activated protein kinase gamma2 subunit
AMPK gamma2
CMH6
H91620p
protein kinase, AMP-activated, gamma 2 non-catalytic subunit
WPWS
Related patient information and medicines
Patient information leaflet
Pruebas de función hepática
Pruebas de función hepática are a set of análisis de sangre commonly done to check on the salud of your liver. Changes in liver function tests give a clue as to whether your liver is under strain, inflamed, infected or diseased, and how badly. The pattern of the liver function tests can give a clue to the cause and can... Albumin. Total protein. Gamma GT..
Patient information leaflet
Distrofia muscular
Muscular dystrophy is an inherited (genetic) disorder causing muscle weakness. There are different types of muscular dystrophy, which vary as to how severe they are, ranging from very mild to severe. The different types also vary as to what age they begin. Genes are the 'control centre' of each cell in the body, including muscle cells. The genes.
Patient information leaflet
Trastornos del almacenamiento de glucógeno
Trastornos del almacenamiento de glucógeno 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. However, type II (infantile.
Patient information leaflet
Enzimas cardíacas
Enzimas cardíacas son substances released by the heart muscle when it is injured - for example, during a heart attack or a severe case of angina. A heart attack (myocardial infarction) can present in many ways, the most common of which is chest pain. This included creatine kinase-MB (CK-MB); however, such tests have been outdated by troponins..
Patient information leaflet
Distrofia muscular de Duchenne
It usually affects only boys, although girls may carry the Duchenne gene. What is Duchenne muscular dystrophy. Duchenne muscular dystrophy (DMD) is an inherited (genetic) condition cuál affects muscle strength and function. It causes progressive muscle weakness and is a serious condition which starts in early childhood. The muscle weakness is.
Patient information leaflet
Escaneos de tiroides y pruebas de captación
Thyroid scans and uptake tests use small doses of radioactive chemicals to create pictures of your thyroid gland. These tests help to assess the size, structure and function of your thyroid. Note : the information below is a general guide only. The arrangements, and the way tests are performed, may vary between different hospitals. Always follow.
Lecturas adicionales y referencias
- protein kinase AMP-activated non-catalytic subunit gamma 2; MedlinePlus, National Library of Medicine.
- Ahmad F, Arad M, Musi N, He H, Wolf C, Branco D, Perez-Atayde AR, Stapleton D, Bali D, Xing Y, Tian R, Goodyear LJ, Berul CI, Ingwall JS, Seidman CE, Seidman JG. Increased alpha2 subunit-associated AMPK activity and PRKAG2 cardiomyopathy. Circulation. 2005 Nov 15;112(20):3140-8. doi: 10.1161/CIRCULATIONAHA.105.550806. Epub 2005 Nov 7.
- Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW. Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. Am J Hum Genet. 2005 Jun;76(6):1034-49. doi: 10.1086/430840. Epub 2005 May 2.
- Daniel T, Carling D. Functional analysis of mutations in the gamma 2 subunit of AMP-activated protein kinase associated with cardiac hypertrophy and Wolff-Parkinson-White syndrome. J Biol Chem. 2002 Dec 27;277(52):51017-24. doi: 10.1074/jbc.M207093200. Epub 2002 Oct 22.
- Gollob MH, Green MS, Tang AS, Gollob T, Karibe A, Ali Hassan AS, Ahmad F, Lozado R, Shah G, Fananapazir L, Bachinski LL, Roberts R. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N Engl J Med. 2001 Jun 14;344(24):1823-31. doi: 10.1056/NEJM200106143442403.
- Gollob MH, Green MS, Tang AS, Roberts R. PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy. Curr Opin Cardiol. 2002 May;17(3):229-34. doi: 10.1097/00001573-200205000-00004.
- Gollob MH, Seger JJ, Gollob TN, Tapscott T, Gonzales O, Bachinski L, Roberts R. Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. Circulation. 2001 Dec 18;104(25):3030-3. doi: 10.1161/hc5001.102111.
- Hardie DG, Sakamoto K. AMPK: a key sensor of fuel and energy status in skeletal muscle. Physiology (Bethesda). 2006 Feb;21:48-60. doi: 10.1152/physiol.00044.2005.
- Laforet P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D. A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis. Neuromuscul Disord. 2006 Mar;16(3):178-82. doi: 10.1016/j.nmd.2005.12.004. Epub 2006 Feb 17.
- Murphy RT, Mogensen J, McGarry K, Bahl A, Evans A, Osman E, Syrris P, Gorman G, Farrell M, Holton JL, Hanna MG, Hughes S, Elliott PM, Macrae CA, McKenna WJ. Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome: natural history. J Am Coll Cardiol. 2005 Mar 15;45(6):922-30. doi: 10.1016/j.jacc.2004.11.053.
- Oliveira SM, Ehtisham J, Redwood CS, Ostman-Smith I, Blair EM, Watkins H. Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis. J Mol Cell Cardiol. 2003 Oct;35(10):1251-5. doi: 10.1016/s0022-2828(03)00237-2.
- Sternick EB, Oliva A, Magalhaes LP, Gerken LM, Hong K, Santana O, Brugada P, Brugada J, Brugada R. Familial pseudo-Wolff-Parkinson-White syndrome. J Cardiovasc Electrophysiol. 2006 Jul;17(7):724-32. doi: 10.1111/j.1540-8167.2006.00485.x.
Únete a la conversación
Comparte tus pensamientos o experiencias con otros en nuestro comunidades de pacientes.
Pregunta, comparte, conecta.
Navega por discusiones, haz preguntas y comparte experiencias en cientos de temas de salud.
Suscríbete al boletín de Patient
Tu dosis semanal de consejos de salud claros y confiables, escritos para ayudarte a sentirte informado, seguro y en control.
Al suscribirte aceptas nuestros Política de Privacidad. Puedes darte de baja en cualquier momento. Nunca vendemos tus datos.