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Protein kinase, AMP-activated, gamma 2 non-catalytic subunit

PRKAG2
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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: AMPK, HAD, AGE, CAN, LAMP-2
Papers on PRKAG2
Polyglucosan storage myopathies.
Review
New
Oldfors et al., Göteborg, Sweden. In Mol Aspects Med, Dec 2015
Mutations in eight human genes are known to be associated with polyglucosan storage involving muscle, namely GYG1, GBE1, RBCK1 (HOIL-1), PFKM, EPM2A, EPM2B (NHLRC1), PRDM8, and PRKAG2.
Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.
New
Baylor Hopkins Centers for Mendelian Genomics et al., Iowa City, United States. In Am J Med Genet A, Dec 2015
To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW.
Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family.
New
Chen et al., Shanghai, China. In Mol Med Report, Sep 2015
Polymerase chain reaction and direct sequencing were used to confirm the presence of a mutation, and confirmed that the pathogenic mutation was 5'-AMP‑activated protein kinase subunit γ2 (PRKAG2) (p.R302Q), which has been previously reported in a family with an inherited from of WPW.
PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.
New
Ammous et al., Miami, United States. In Ann Pediatr Cardiol, May 2015
Mutations in PRKAG2 gene that regulates the γ2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities.
Cardiovascular magnetic resonance findings in patients with PRKAG2 gene mutations.
Holmström et al., Helsinki, Finland. In J Cardiovasc Magn Reson, 2014
BACKGROUND: Autosomal dominantly inherited PRKAG2 cardiac syndrome is due to a unique defect of the cardiac cell metabolism and has a distinctive histopathology with excess intracellular glycogen, and prognosis different from sarcomeric hypertrophic cardiomyopathy.
Transcriptome analysis of mRNA and miRNA in skeletal muscle indicates an important network for differential Residual Feed Intake in pigs.
Zhao et al., Wuhan, China. In Sci Rep, 2014
The down-regulated genes were mainly involved in mitochondrial energy metabolism, including FABP3, RCAN, PPARGC1 (PGC-1A), HK2 and PRKAG2.
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Impact
Gieger et al., Freiburg, Germany. In Nat Genet, 2013
By combining data from >140,000 individuals of European ancestry within the Global Urate Genetics Consortium (GUGC), we identified and replicated 28 genome-wide significant loci in association with serum urate concentrations (18 new regions in or near TRIM46, INHBB, SFMBT1, TMEM171, VEGFA, BAZ1B, PRKAG2, STC1, HNF4G, A1CF, ATXN2, UBE2Q2, IGF1R, NFAT5, MAF, HLF, ACVR1B-ACVRL1 and B3GNT4).
AMPK γ2 subunit gene PRKAG2 polymorphism associated with cognitive impairment as well as diabetes in old age.
GeneRIF
Oh et al., Seoul, South Korea. In Psychoneuroendocrinology, 2012
found a significant association between the -26C/T polymorphism and cognitive impairment. Moreover, this polymorphism was also related to the presence of diabetes.
High risk of sudden death associated with a PRKAG2-related familial Wolff-Parkinson-White syndrome.
GeneRIF
Gao et al., Lanzhou, China. In J Electrocardiol, 2011
The mutation in the PRKAG2 gene was identified as responsible for the familial form of WPW syndrome in this Chinese family.
A case of familial hypertrophic cardiomyopathy emphasizes the importance of parallel screening of multiple disease genes.
GeneRIF
Borisov et al., In Clin Res Cardiol, 2011
These two individuals may be considered to suffer from a combination of both a classical hypertrophic cardiomyopathy (due to the two mutations in MYBPC3) and a glycogen storage cardiomyopathy (due to the mutation in PRKAG2).
Novel role of AMP-activated protein kinase signaling in cigarette smoke induction of IL-8 in human lung epithelial cells and lung inflammation in mice.
GeneRIF
Kou et al., I-lan, Taiwan. In Free Radic Biol Med, 2011
important for cigarette smoking-induced IL-8 production by lung epithelial cells
Chronic kidney disease: novel insights from genome-wide association studies.
Review
Heid et al., Regensburg, Germany. In Kidney Blood Press Res, 2010
UMOD, SHROOM3, STC1, LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2/SH2B3, DACH1, UBE2Q2, and SLC7A9 were uncovered as loci associated with estimated glomerular filtration rate (eGFR) and CKD, and CUBN as a locus for albuminuria in cross-sectional data of general population studies.
Genome-wide association studies in nephrology research.
Review
Köttgen, Freiburg, Germany. In Am J Kidney Dis, 2010
For example, common variants in the UMOD and PRKAG2 genes are associated with risk of chronic kidney disease; variants in CLDN14 with risk of kidney stone disease; and variants in or near SHROOM3, STC1, LASS2, GCKR, NAT8/ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, FAM122A/PIP5K1B, ATXN2, DACH1, UBE2Q2/FBXO22, and SLC7A9, with differences in glomerular filtration rate.
Clinical and genetic investigation of pediatric cases of Wolff-Parkinson-White syndrome in Tunisian families.
GeneRIF
Abdelhak et al., Tunisia. In Heart Lung, 2010
no mutations were detected within the coding region of PRKAG2 in Wolff-Parkinson-White syndrome patients
New loci associated with kidney function and chronic kidney disease.
Impact
Fox et al., Baltimore, United States. In Nat Genet, 2010
Follow-up of the 23 new genome-wide-significant loci (P < 5 x 10(-8)) in 22,982 replication samples identified 13 new loci affecting renal function and CKD (in or near LASS2, GCKR, ALMS1, TFDP2, DAB2, SLC34A1, VEGFA, PRKAG2, PIP5K1B, ATXN2, DACH1, UBE2Q2 and SLC7A9) and 7 loci suspected to affect creatinine production and secretion (CPS1, SLC22A2, TMEM60, WDR37, SLC6A13, WDR72 and BCAS3).
Shared genetic causes of cardiac hypertrophy in children and adults.
Impact
Seidman et al., Boston, United States. In N Engl J Med, 2008
We also sequenced PRKAG2 and LAMP2, which encode metabolic proteins; mutations in these genes can cause early-onset ventricular hypertrophy.
[AMP-activated protein kinase: how a mistake in energy gauge causes glycogen storage].
Review
GeneRIF
Arad et al., Petah Tikva, Israel. In Harefuah, 2007
Human mutations which disrupt the nucleotide-binding affinity of the gamma2 subunit lead to loss of inhibition by ATP and inappropriate activate AMP-Kinase under resting conditions.
[Inherited metabolic cardiomyopathies].
Review
Hagège et al., Paris, France. In Presse Med, 2007
In some of these cases, cardiomyopathy can be attributed to a genetics storage disease with enlarged glycogen vacuolss (PRKAG2 deficiency, Danon disease, Pompe disease) and/or lysosomol vacuoles (Donon disease, Pompe disease, Fabry disease).
Glycogen storage diseases presenting as hypertrophic cardiomyopathy.
Impact
GeneRIF
Seidman et al., Boston, United States. In N Engl J Med, 2005
The glycogen-storage cardiomyopathy produced by LAMP2 or PRKAG2 mutations resembles hypertrophic cardiomyopathy but is distinguished by electrophysiological abnormalities
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
Impact
Hassan et al., Houston, United States. In N Engl J Med, 2001
We identified a missense mutation in the gene that encodes the gamma2 regulatory subunit of AMP-activated protein kinase (PRKAG2).
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