| Gene ID | N/A |
| Accession | NM_000294 |
| Alternative Name | GSD9C |
| Species | Human |
| Source | Insect cells |
| Description | 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 .? |
| Accession | NM_000294 |
| Functions | The specific activity of PHKG2 was determined to be70 nmol /min/mg as per activity assay protocol. |
| 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 | 70 |
| Purity | 70% - 90% |
| 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. |