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PHKG2 is the hepatic and testis isoform of the gamma subunit of phosphorylase kinase. PHKG2 gene contains 10 exons and spans 9.5 kb and maps to chromosome 16p12.1-p11.2. Deficiency of PHK, a regulatory enzyme of glycogen metabolism, is responsible for 25% of all cases of glycogen storage disease and is genetically and clinically heterogeneous. Mutations in the PHKG2 gene lead to autosomal liver-specific PHK deficiency (glycogen storage disease IXc) and an increased risk of cirrhosis and at least 11 PHKG2 mutations have been identified to date.
after opening, aliquot into smaller quantities and store at -70 °C. Avoid repeating handling and multiple freeze/thaw cycles
Supplied in 50mM Tris-HCl, pH 7.5, 150mM NaCl, 10mM glutathione, 0.1mM EDTA, 0.25mM DTT, 0.1mM PMSF, 25% glycerol.
PRECISIO 为以下机构的注册商标: Sigma-Aldrich Co. LLC
recombinant | expressed in baculovirus infected Sf9 cells |
grade | PRECISIO® Kinase |
assay | ≥70% (SDS-PAGE) |
form | buffered aqueous glycerol solution |
activity | 59-81 nmol/min·mg |
mol wt | mol wt ~70 kDa |
NCBI accession no. | NM_000294 |
shipped in | dry ice |
storage temp. | ?70°C |
Gene Information | human ... PHKG2(5261) |
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