Genes > PHKG2 >

References

These sources were used to develop the Genetics Home Reference gene summary on the PHKG2 gene.

Brushia RJ, Walsh DA. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Front Biosci. 1999 Sep 15;4:D618-41. Review. PubMed citation
Burwinkel B, Rootwelt T, Kvittingen EA, Chakraborty PK, Kilimann MW. Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 gene. Pediatr Res. 2003 Dec;54(6):834-9. Epub 2003 Aug 20. PubMed citation
Burwinkel B, Shiomi S, Al Zaben A, Kilimann MW. Liver glycogenosis due to phosphorylase kinase deficiency: PHKG2 gene structure and mutations associated with cirrhosis. Hum Mol Genet. 1998 Jan;7(1):149-54. PubMed citation
Entrez Gene
Maichele AJ, Burwinkel B, Maire I, Søvik O, Kilimann MW. Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans. Nat Genet. 1996 Nov;14(3):337-40. PubMed citation
OMIM: PHOSPHORYLASE KINASE, TESTIS/LIVER, GAMMA-2

Reviewed: September 2012

Published: June 17, 2013