PHKG1 抗体 (RR-34): sc-100536

PHKG1 Antibody (RR-34) is an IgG_2a κ mouse monoclonal PHKG1 antibody (also designated PHKG1 antibody) suitable for the detection of the PHKG1 protein of human origin by IF, IHC(P) and ELISA. PHKG1 Antibody (RR-34) is available as the non-conjugated anti-PHKG1 antibody. PHKG1 (Phosphorylase kinase subunit γ1), is a subunit of phosphorylase kinase (PHK) that belongs to the Ser/Thr protein kinase family. PHK is a hexadecameric protein composed of four α chains, four β chains, four γ chains and four δ chains. The γ chains are catalytic chains, the α and β chains are regulatory chains and the δ chains are calmodulins. PHKG1 contains two calmodulin-binding domains and one protein kinase domain. As the catalytic chain of PHK, PHKG1 is responsible for catalyzing the phosphorylation and activation of glycogen phosphorylase and therefore it plays an important role in the glycogenolytic pathway. Mutations in the gene encoding PHKG1 can lead to PHK deficiency and result in glycogen storage disease type 9C (GSD9C), also known as autosomal liver glycogenosis.

Alexa Fluor^® is a trademark of Molecular Probes Inc., OR., USA

LI-COR^® and Odyssey^® are registered trademarks of LI-COR Biosciences

References:

1. Phosphorylase kinase deficient liver glycogenosis: progression to cirrhosis in infancy associated with PHKG2 mutations (H144Y and L225R).  |  Burwinkel, B., et al. 2000. J Med Genet. 37: 376-7. PMID: 10905889
2. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene.  |  Burwinkel, B., et al. 2003. Pediatr Res. 54: 834-9. PMID: 12930917
3. Molecular cloning and enzymatic analysis of the rat homolog of ′PhK-gamma T,′ an isoform of phosphorylase kinase catalytic subunit.  |  Calalb, MB., et al. 1992. J Biol Chem. 267: 1455-63. PMID: 1370475
4. Effects of Scutellariae Radix on gene expression in HEK 293 cells using cDNA microarray.  |  Chen, CS., et al. 2006. J Ethnopharmacol. 105: 346-51. PMID: 16406416
5. Glycogen storage disease type IX: High variability in clinical phenotype.  |  Beauchamp, NJ., et al. 2007. Mol Genet Metab. 92: 88-99. PMID: 17689125
6. Messenger ribonucleic acid encoding an apparent isoform of phosphorylase kinase catalytic subunit is abundant in the adult testis.  |  Hanks, SK. 1989. Mol Endocrinol. 3: 110-6. PMID: 2915644
7. The testis isoform of the phosphorylase kinase catalytic subunit (PhK-gammaT) plays a critical role in regulation of glycogen mobilization in developing lung.  |  Liu, L., et al. 1996. J Biol Chem. 271: 11761-6. PMID: 8662648
8. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.  |  Maichele, AJ., et al. 1996. Nat Genet. 14: 337-40. PMID: 8896567
9. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis.  |  Burwinkel, B., et al. 1998. Hum Mol Genet. 7: 149-54. PMID: 9384616