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PHKG2, Active

Recombinant full-length human PHKG2 was expressed by baculovirus in Sf9 insect cells using an N-terminal GST tag.
Catalog No. P20-10G


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Catalog No. Pack Size Price (USD)
P20-10G-05 5 ug $226
P20-10G-10 10 ug $325
P20-10G-BULK BULK Contact Us  


Overview:

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).


Gene Aliases:

GSD9C


Genbank Number:


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


Specific Activity:

Sample Kinase Activity Plot. For specific information on a given lot, see related technical data sheet.


Purity:

Sample Purity Data. For specific information on a given lot, see related technical data sheet.


Storage, Stability and Shipping:

Store product at –70oC. 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.


Molecular Weight:

~70 kDa



Product Datasheets



There are no related publications available for this product.


RESEARCH AREAS

Metabolic Disorder, Ser/Thr Kinases


RELATED PRODUCTS


  MLC Peptide, M09-58

  PHKG1, Active, P19-10G


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