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Encompassing Amino Acids: full length
Applications: Useful for the study of enzyme kinetics, screening inhibitors, and selectivity profiling.
Background: 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 (1). 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 (2).
Description: Recombinant human PHKG2, full length, with N-terminal GST-tag, expressed in Sf9 insect cells via a baculovirus expression system.
Format: Aqueous buffer solution
Formulation: 50 mM Tris-HCl, pH 7.5, 150 mM NaCl, 0.25 mM DTT, 0.1 mM EDTA, 0.1 mM PMSF, 25% glycerol
Genbank: NM_000294
Host Cell Line: Sf9 cells
Purity: ≥75%
Storage Stability: At least 6 months at -80°C.
Tags: N-terminal GST-tag
Uniprot: P15735
Warnings: Avoid freeze/thaw cycles.
Biosafety Level: Not applicable (BSL-1)
References: 1. Burwinkel B, et al: Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum. Molec. Genet. 7: 149-154, 1998.
2. Maichele A J, et al: Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nature Genet. 14: 337-340, 1996.
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