功能： disease:Defects in PHKA2 are the cause of glycogen storage disease type 9A (GSD9A) [MIM:306000]; also known as X-linked liver glycogenosis (XLG). GSD9A is a metabolic disorder resulting in a mild glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type, and type 2 or variant type. The variant type is characterized mainly by enlarged liver and growth retardation; patients do not show in vitro enzymatic deficiency of phosphorylase kinase. Unlike other glycogenosis diseases, GSD9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.,enzyme regulation:By phosphorylation of various serine residues and by calcium.,function:Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.,pathway:Glycan biosynthesis; glycogen metabolism.,similarity:Belongs to the phosphorylase b kinase regulatory chain family.,subunit:Polymer of 16 chains, four each of alpha, beta, gamma, and delta. Alpha and beta are regulatory chains, gamma is the catalytic chain, and delta is calmodulin.,tissue specificity:Predominantly expressed in liver and other non-muscle tissues.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Lipid-anchor ; Cytoplasmic side .
组织表达： Predominantly expressed in liver and other non-muscle tissues.
功能： disease:Defects in PHKA2 are the cause of glycogen storage disease type 9A (GSD9A) [MIM:306000]; also known as X-linked liver glycogenosis (XLG). GSD9A is a metabolic disorder resulting in a mild glycogenosis with clinical symptoms that include hepatomegaly, growth retardation, muscle weakness, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis. Two subtypes are known: type 1 or classic type, and type 2 or variant type. The variant type is characterized mainly by enlarged liver and growth retardation; patients do not show in vitro enzymatic deficiency of phosphorylase kinase. Unlike other glycogenosis diseases, GSD9A is generally a benign condition. Patients improve with age and are often asymptomatic as adults. Accurate diagnosis is therefore also of prognostic interest.,enzyme regulation:By phosphorylation of various serine residues and by calcium.,function:Phosphorylase b kinase catalyzes the phosphorylation of serine in certain substrates, including troponin I. The alpha chain may bind calmodulin.,pathway:Glycan biosynthesis; glycogen metabolism.,similarity:Belongs to the phosphorylase b kinase regulatory chain family.,subunit:Polymer of 16 chains, four each of alpha, beta, gamma, and delta. Alpha and beta are regulatory chains, gamma is the catalytic chain, and delta is calmodulin.,tissue specificity:Predominantly expressed in liver and other non-muscle tissues.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Lipid-anchor ; Cytoplasmic side .
组织表达： Predominantly expressed in liver and other non-muscle tissues.
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