功能： disease:Defects in PRKAG2 are a cause of cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CHMWPWS) [MIM:600858]. HCM due to PRKAG2 mutations is probably due to polysaccharide storage in the heart. Defects in PRKAG2 may not be a frequent cause of HCM where no features of pre-excitation are found in affected individuals.,disease:Defects in PRKAG2 are a cause of glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]; also known as phosphorylase kinase deficiency of heart or congenital nonlysosomal cardiac glycogenosis. GSDH is a rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise.,disease:Defects in PRKAG2 are the cause of Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]; also known as preexcitation syndrome. It is the second most common cause of paroxysmal supraventricular tachycardia.,function:AMPK is responsible for the regulation of fatty acid synthesis by phosphorylation of acetyl-CoA carboxylase. Also regulates cholesterol synthesis via phosphorylation and inactivation of hydroxymethylglutaryl-CoA reductase and hormone-sensitive lipase. This is a regulatory subunit.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,sequence caution:Frameshifts are upstream of the initiating Met of isoform B.,similarity:Belongs to the 5'-AMP-activated protein kinase gamma subunit family.,similarity:Contains 4 CBS domains.,subunit:Heterotrimer of an alpha catalytic subunit, a beta and a gamma non-catalytic regulatory subunits.,tissue specificity:Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： extracellular space,nucleoplasm,cytosol,nucleotide-activated protein kinase complex,
组织表达： Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.
科研货号： PLA014683
AMPKγ2 Polyclonal Antibody
Catalog NoPLA014683
Product information
基因名称： PRKAG2
蛋白名称： 5'-AMP-activated protein kinase subunit gamma-2
功能： disease:Defects in PRKAG2 are a cause of cardiomyopathy familial hypertrophic with Wolff-Parkinson-White syndrome (CHMWPWS) [MIM:600858]. HCM due to PRKAG2 mutations is probably due to polysaccharide storage in the heart. Defects in PRKAG2 may not be a frequent cause of HCM where no features of pre-excitation are found in affected individuals.,disease:Defects in PRKAG2 are a cause of glycogen storage disease of heart lethal congenital (GSDH) [MIM:261740]; also known as phosphorylase kinase deficiency of heart or congenital nonlysosomal cardiac glycogenosis. GSDH is a rare disease which leads to death within a few weeks to a few months after birth, through heart failure and respiratory compromise.,disease:Defects in PRKAG2 are the cause of Wolff-Parkinson-White syndrome (WPWS) [MIM:194200]; also known as preexcitation syndrome. It is the second most common cause of paroxysmal supraventricular tachycardia.,function:AMPK is responsible for the regulation of fatty acid synthesis by phosphorylation of acetyl-CoA carboxylase. Also regulates cholesterol synthesis via phosphorylation and inactivation of hydroxymethylglutaryl-CoA reductase and hormone-sensitive lipase. This is a regulatory subunit.,PTM:Phosphorylated upon DNA damage, probably by ATM or ATR.,sequence caution:Frameshifts are upstream of the initiating Met of isoform B.,similarity:Belongs to the 5'-AMP-activated protein kinase gamma subunit family.,similarity:Contains 4 CBS domains.,subunit:Heterotrimer of an alpha catalytic subunit, a beta and a gamma non-catalytic regulatory subunits.,tissue specificity:Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： extracellular space,nucleoplasm,cytosol,nucleotide-activated protein kinase complex,
组织表达： Isoform B is ubiquitously expressed except in liver and thymus. The highest level is detected in heart with abundant expression in placenta and testis.
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