Recombinant Human PHKG2, GST-tagged, Active

• Cat.No.: PHKG2-388H
• Product Overview: Recombinant human full-length PHKG2 was expressed by baculovirus inSf9 cellsusing an N-terminal GST tag. MW=70kDa.

Specification

• Species: Human
• Source: Sf9 Cells
• Tag: GST
• 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.
• Sequence: Full-length.
• Applications: Kinase Assay, Western Blot.
• Storage And Stability: 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.

Gene Information

• Gene Name: PHKG2 phosphorylase kinase, gamma 2 (testis) [ Homo sapiens ]
• Synonyms: PHKG2; phosphorylase kinase, gamma 2 (testis); GSD9C; Phosphorylase b kinase gamma catalytic chain, testis/liver isoform; PHK-gamma-T; EC 2.7.11.19; Phosphorylase kinase subunit gamma 2; PSK-C3
• Gene ID: 5261
• mRNA Refseq: NM_000294
• Protein Refseq: NP_000285
• UniProt ID: P15735
• Chromosome Location: 16p11.2
• MIM: 172471
• Pathway: Calcium signaling pathway; Insulin signaling pathway; Metabolism of carbohydrates
• Function: ATP binding; nucleotide binding; protein binding; transferase activity; calmodulin binding; enzyme binding; sphorylase kinase activity; protein serine/threonine kinase activity