PHKG2, GST-tag Recombinant

Catalog #

40151

$410 *

Size: 10 µg

Qty

Bulk/Custom

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Description

Recombinant human PHKG2, full length, with N-terminal GST-tag, expressed in Sf9 insect cells via a baculovirus expression system.

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Synonyms

GSD9C

Product Info

Storage and Usage

Citations

Species

Human

Host Species/Expression System

Sf9 insect cells

Purity

≥75%

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

70 kDa

Amino Acids

full length

Genbank #

NM_000294

UniProt #

P15735

Tag(s)

N-terminal GST-tag

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).

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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PHKG2, GST-tag Recombinant

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