Biology:PRKAG2

Short description: Protein-coding gene in the species Homo sapiens

Generic protein structure example

5'-AMP-activated protein kinase subunit gamma-2 is an enzyme that in humans is encoded by the PRKAG2 gene.

Function

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family and encodes a protein with four CBS domains. Mutations in this gene have been associated with ventricular pre-excitation (Wolff–Parkinson–White syndrome), progressive conduction system disease and cardiac hypertrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

Interactions

PRKAG2 has been shown to interact with PRKAB2 and PRKAB1.

Further reading

• "PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy". Current Opinion in Cardiology 17 (3): 229–234. May 2002. doi:10.1097/00001573-200205000-00004. PMID 12015471. 
• "Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome". Biochemical Society Transactions 31 (Pt 1): 228–231. February 2003. doi:10.1042/BST0310228. PMID 12546691. 
• "[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage]". Harefuah 146 (10): 770–5, 813–4. October 2007. PMID 17990392. 
• "HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism". Journal of Immunology 145 (11): 3699–3705. December 1990. doi:10.4049/jimmunol.145.11.3699. PMID 1978848. 
• "Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3". The Journal of Clinical Investigation 96 (3): 1216–1220. September 1995. doi:10.1172/JCI118154. PMID 7657794. 
• "Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes". Proceedings of the National Academy of Sciences of the United States of America 90 (14): 6676–6680. July 1993. doi:10.1073/pnas.90.14.6676. PMID 7688126. Bibcode: 1993PNAS...90.6676H. 
• "HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro". AIDS 8 (7): 1016–1017. July 1994. doi:10.1097/00002030-199407000-00025. PMID 7946090. 
• "The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix". Journal of Virology 71 (6): 4372–4377. June 1997. doi:10.1128/JVI.71.6.4372-4377.1997. PMID 9151826. 
• "AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location". FEBS Letters 409 (3): 452–456. June 1997. doi:10.1016/S0014-5793(97)00569-3. PMID 9224708. Bibcode: 1997FEBSL.409..452S. 
• "The Tat protein of HIV-1 induces tumor necrosis factor-alpha production. Implications for HIV-1-associated neurological diseases". The Journal of Biological Chemistry 272 (36): 22385–22388. September 1997. doi:10.1074/jbc.272.36.22385. PMID 9278385. 
• "Human immunodeficiency virus Tat protein induces interleukin 6 mRNA expression in human brain endothelial cells via protein kinase C- and cAMP-dependent protein kinase pathways". AIDS Research and Human Retroviruses 14 (10): 825–833. July 1998. doi:10.1089/aid.1998.14.825. PMID 9671211. 
• "HIV-1 tat molecular diversity and induction of TNF-alpha: implications for HIV-induced neurological disease". Neuroimmunomodulation 5 (3–4): 184–192. 1998. doi:10.1159/000026336. PMID 9730685. 
• "Toward a complete human genome sequence". Genome Research 8 (11): 1097–1108. November 1998. doi:10.1101/gr.8.11.1097. PMID 9847074. 
• "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". The Biochemical Journal 346 Pt 3 (Pt 3): 659–669. March 2000. doi:10.1042/0264-6021:3460659. PMID 10698692. 
• "Molecular cloning, genomic organization, and mapping of PRKAG2, a heart abundant gamma2 subunit of 5'-AMP-activated protein kinase, to human chromosome 7q36". Genomics 70 (2): 258–263. December 2000. doi:10.1006/geno.2000.6376. PMID 11112354. 
• "Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis". Human Molecular Genetics 10 (11): 1215–1220. May 2001. doi:10.1093/hmg/10.11.1215. PMID 11371514. 
• "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome". The New England Journal of Medicine 344 (24): 1823–1831. June 2001. doi:10.1056/NEJM200106143442403. PMID 11407343. 
• "An activating mutation in the gamma1 subunit of the AMP-activated protein kinase". FEBS Letters 500 (3): 163–168. July 2001. doi:10.1016/S0014-5793(01)02602-3. PMID 11445078. Bibcode: 2001FEBSL.500..163H. 

External links

• GeneReviews/NCBI/NIH/UW entry on Familial Hypertrophic Cardiomyopathy Overview