PRKAG2
| Protein kinase, AMP-activated, gamma 2 non-catalytic subunit | |||||||||||
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| Identifiers | |||||||||||
| Symbols | PRKAG2 ; AAKG; AAKG2; CMH6; H91620p; WPWS | ||||||||||
| External IDs | Template:OMIM5 Template:MGI HomoloGene: 81846 | ||||||||||
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| RNA expression pattern | |||||||||||
| File:PBB GE PRKAG2 218292 s at tn.png | |||||||||||
| More reference expression data | |||||||||||
| Orthologs | |||||||||||
| Template:GNF Ortholog box | |||||||||||
| Species | Human | Mouse | |||||||||
| Entrez | n/a | n/a | |||||||||
| Ensembl | n/a | n/a | |||||||||
| UniProt | n/a | n/a | |||||||||
| RefSeq (mRNA) | n/a | n/a | |||||||||
| RefSeq (protein) | n/a | n/a | |||||||||
| Location (UCSC) | n/a | n/a | |||||||||
| PubMed search | n/a | n/a | |||||||||
Protein kinase, AMP-activated, gamma 2 non-catalytic subunit, also known as PRKAG2, is a human gene.[1]
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 cystathionine beta-synthase 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.[1]
References
Further reading
- Gollob MH, Green MS, Tang AS, Roberts R (2002). "PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy". Curr. Opin. Cardiol. 17 (3): 229–34. PMID 12015471.
- Gollob MH (2003). "Glycogen storage disease as a unifying mechanism of disease in the PRKAG2 cardiac syndrome". Biochem. Soc. Trans. 31 (Pt 1): 228–31. doi:10.1042/ Check
|doi=value (help). PMID 12546691. - Ofir M, Hochhauser E, Vidne BA; et al. (2007). "[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage]". Harefuah. 146 (10): 770–5, 813–4. PMID 17990392.
- Hofmann B, Nishanian P, Baldwin RL; et al. (1991). "HIV inhibits the early steps of lymphocyte activation, including initiation of inositol phospholipid metabolism". J. Immunol. 145 (11): 3699–705. PMID 1978848.
- MacRae CA, Ghaisas N, Kass S; et al. (1995). "Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3". J. Clin. Invest. 96 (3): 1216–20. PMID 7657794.
- Hofmann B, Nishanian P, Nguyen T; et al. (1993). "Human immunodeficiency virus proteins induce the inhibitory cAMP/protein kinase A pathway in normal lymphocytes". Proc. Natl. Acad. Sci. U.S.A. 90 (14): 6676–80. PMID 7688126.
- Hofmann B, Nishanian P, Fan J; et al. (1994). "HIV Gag p17 protein impairs proliferation of normal lymphocytes in vitro". AIDS. 8 (7): 1016–7. PMID 7946090.
- Stapleton D, Mitchelhill KI, Gao G; et al. (1996). "Mammalian AMP-activated protein kinase subfamily". J. Biol. Chem. 271 (2): 611–4. PMID 8557660.
- Gao G, Fernandez CS, Stapleton D; et al. (1996). "Non-catalytic beta- and gamma-subunit isoforms of the 5'-AMP-activated protein kinase". J. Biol. Chem. 271 (15): 8675–81. PMID 8621499.
- Swingler S, Gallay P, Camaur D; et al. (1997). "The Nef protein of human immunodeficiency virus type 1 enhances serine phosphorylation of the viral matrix". J. Virol. 71 (6): 4372–7. PMID 9151826.
- Stapleton D, Woollatt E, Mitchelhill KI; et al. (1997). "AMP-activated protein kinase isoenzyme family: subunit structure and chromosomal location". FEBS Lett. 409 (3): 452–6. PMID 9224708.
- Chen P, Mayne M, Power C, Nath A (1997). "The Tat protein of HIV-1 induces tumor necrosis factor-alpha production. Implications for HIV-1-associated neurological diseases". J. Biol. Chem. 272 (36): 22385–8. PMID 9278385.
- Zidovetzki R, Wang JL, Chen P; et al. (1998). "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 Res. Hum. Retroviruses. 14 (10): 825–33. PMID 9671211.
- Mayne M, Bratanich AC, Chen P; et al. (1998). "HIV-1 tat molecular diversity and induction of TNF-alpha: implications for HIV-induced neurological disease". Neuroimmunomodulation. 5 (3–4): 184–92. PMID 9730685.
- "Toward a complete human genome sequence". Genome Res. 8 (11): 1097–108. 1999. PMID 9847074.
- Cheung PC, Salt IP, Davies SP; et al. (2000). "Characterization of AMP-activated protein kinase gamma-subunit isoforms and their role in AMP binding". Biochem. J. 346 Pt 3: 659–69. PMID 10698692.
- Lang T, Yu L, Tu Q; et al. (2001). "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): 258–63. doi:10.1006/geno.2000.6376. PMID 11112354.
- Blair E, Redwood C, Ashrafian H; et al. (2001). "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". Hum. Mol. Genet. 10 (11): 1215–20. PMID 11371514.
- Gollob MH, Green MS, Tang AS; et al. (2001). "Identification of a gene responsible for familial Wolff-Parkinson-White syndrome". N. Engl. J. Med. 344 (24): 1823–31. PMID 11407343.
- Hamilton SR, Stapleton D, O'Donnell JB; et al. (2001). "An activating mutation in the gamma1 subunit of the AMP-activated protein kinase". FEBS Lett. 500 (3): 163–8. PMID 11445078.
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