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Gene Review:

PHKG1 - phosphorylase kinase, gamma 1 (muscle)

Homo sapiens

Synonyms: PHK-gamma-M, PHKG, Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform, Phosphorylase kinase subunit gamma-1, Serine/threonine-protein kinase PHKG1

Hagedorn, C.H. et al., Burwinkel, B. et al., Burwinkel, B. et al., Huang, C.Y. et al.

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Disease relevance of PHKG1

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases [1].

High impact information on PHKG1

The gene extends over 9.5 kilonucleotides and is divided into 10 exons; positions of introns are highly conserved between PHKG2 and the gene of the muscle isoform of the gamma subunit, PHKG1 [2].
Mutational analyses of the metal ion and substrate binding sites of phosphorylase kinase gamma subunit [3].
In the present study, we determined Q1the structure of the PHKG1 gene and characterized its relationship to several pseudogenes [1].
These antibodies reacted during Western immunoblotting with cAMP dependent protein kinase catalytic subunit, phosphorylase kinase gamma subunit and calcium calmodulin dependent protein kinase II which have homologous sequences of GTPEYLAPE, GTPSYLAPE and GTPGYLSPE, respectively [4].

References

Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Burwinkel, B., Hu, B., Schroers, A., Clemens, P.R., Moses, S.W., Shin, Y.S., Pongratz, D., Vorgerd, M., Kilimann, M.W. Eur. J. Hum. Genet. (2003) [Pubmed]
Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Burwinkel, B., Shiomi, S., Al Zaben, A., Kilimann, M.W. Hum. Mol. Genet. (1998) [Pubmed]
Mutational analyses of the metal ion and substrate binding sites of phosphorylase kinase gamma subunit. Huang, C.Y., Yuan, C.J., Luo, S., Graves, D.J. Biochemistry (1994) [Pubmed]
Development and characterization of polyclonal antibodies against a conserved sequence in the catalytic domain of protein kinases. Hagedorn, C.H., Tettelbach, W.H., Panella, H.L. FEBS Lett. (1990) [Pubmed]

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PHKG1	Bos taurus
PHKG1	Canis lupus familiaris
phkg1a	Danio rerio
phkg1b	Danio rerio
PHKG1	Gallus gallus
PHKG1	Macaca mulatta
Phkg1	Mus musculus
PHKG1	Pan troglodytes
Phkg1	Rattus norvegicus
phkg1	Xenopus (Silurana) tropicalis

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