Recombinant Human PHKG2 (N-GST tag) | Z500287

abm | Recombinant Human PHKG2 (N-GST tag) | Z500287

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 .

Functions:

The specific activity of PHKG2 was determined to be70 nmol /min/mg as per activity assay protocol.

Organism:

Human

Source:

Insect cells

Alias:

GSD9C

Gene Symbol:

PHKG2

Gene ID:

N/A

Accession:

NM_000294

Formulation:

50mM Tris-HCl, pH 7.5, 150mM NaCl, 10mM glutathione, 0.1mM EDTA, 0.25mM DTT, 0.1mM PMSF, 25% glycerol.

Solubility:

N/A

Appearance:

Liquid

Molecular Weight (kDa):

70

Molecular Weight 2 (kDA):

N/A

Molecular Weight 3 (kDA):

N/A

Purity:

70% - 90%

Concentration:

Shipping Condition :

Dry Ice

Storage Condition:

Store product at –70°C. For optimal storage, aliquot target into smaller quantities after centrifugation and store at recommended temperature. For most favorable performance, avoid repeated handling and multiple freeze/thaw cycles.