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Phosphorylase kinase, gamma 2

Phosphorylase kinase is a polymer of 16 subunits, four each of alpha, beta, gamma and delta. The alpha subunit includes the skeletal muscle and hepatic isoforms, encoded by two different genes. The beta subunit is the same in both the muscle and hepatic isoforms, and encoded by one gene. The gamma subunit also includes the skeletal muscle and hepatic isoforms, and the hepatic isoform is encoded by this gene. The delta subunit is a calmodulin and can be encoded by three different genes. The gamma subunits contain the active site of the enzyme, whereas the alpha and beta subunits have regulatory functions controlled by phosphorylation. The delta subunit mediates the dependence of the enzyme on calcium concentration. Mutations in this gene cause glycogen storage disease type 9C, also known as autosomal liver glycogenosis. Alternatively spliced transcript variants encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010] (from NCBI)
Top mentioned proteins: PHKA2, PHKB, CAN, HAD, ACID
Papers on PHKG2
Salt-inducible Kinase 3 Signaling Is Important for the Gluconeogenic Programs in Mouse Hepatocytes.
Takemori et al., Ōsaka, Japan. In J Biol Chem, Aug 2015
When pterosin B promoted glucose production by up-regulating gluconeogenic gene expression in mouse hepatoma AML-12 cells, it decreased the glycogen content and stimulated an association between the glycogen phosphorylase kinase gamma subunit (PHKG2) and SIK3.
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.
Kim et al., Seoul, South Korea. In Pediatr Gastroenterol Hepatol Nutr, Jun 2015
Glycogen storage disease type IX (GSD IX) is caused by a defect in phosphorylase b kinase (PhK) that results from mutations in the PHKA2, PHKB, and PHKG2 genes.
Exploratory biomarker analysis for treatment response in KRAS wild type metastatic colorectal cancer patients who received cetuximab plus irinotecan.
Kim et al., Seoul, South Korea. In Bmc Cancer, 2014
PSKH1, TLK2 and PHKG2 were overexpressed significantly in patients with the disease control to IC.
The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.
Mercimek-Mahmutoglu et al., Toronto, Canada. In Mol Genet Metab, 2014
RESULTS: We report on the natural history and treatment outcomes of the 21 patients with GSD-VI and -IX and 16 novel pathogenic mutations in the PHKA2, PHKB, PHKG2 and PYGL genes.
Whole exome sequencing unravels disease-causing genes in consanguineous families in Qatar.
Ben-Omran et al., Montréal, Canada. In Clin Genet, 2014
Using WES approach, we identified the definitive disease-causing mutations in four families: (i) a novel nonsense homozygous (c.1034C>G) in PHKG2 causing glycogen storage disease type 9C (GSD9C) in a male with initial diagnosis of GSD3; (ii) a novel homozygous 1-bp deletion (c.915del) in NSUN2 in a male proband with Noonan-like syndrome; (iii) a homozygous SNV (c.1598C>G) in exon 11 of IDUA causing Hurler syndrome in a female proband with unknown clinical diagnosis; (iv) a de novo known splicing mutation (c.1645+1G>A) in PHEX in a female proband with initial diagnosis of autosomal recessive hypophosphatemic rickets.
Novel PHKG2 mutation causing GSD IX with prominent liver disease: report of three cases and review of literature.
Al-Owain et al., Kuwait, Kuwait. In Eur J Pediatr, 2014
Glycogen storage disease type IX (GSD IX) is a common form of glycogenosis due to mutations in PHKA1, PHKA2, or PHKB and PHKG2 genes resulting in the deficiency of phosphorylase kinase.
Variability of disease spectrum in children with liver phosphorylase kinase deficiency caused by mutations in the PHKG2 gene.
Kishnani et al., Durham, United States. In Mol Genet Metab, 2014
Liver phosphorylase b kinase (PhK) deficiency (glycogen storage disease type IX), one of the most common causes of glycogen storage disease, is caused by mutations in the PHKA2, PHKB, and PHKG2 genes.
Genome instability in blood cells of a BRCA1+ breast cancer family.
Wang et al., Omaha, United States. In Bmc Cancer, 2013
Multiple mutations damaged functionally important and breast cancer-related genes, including transcriptional factor BPTF and FOXP1, ubiquitin ligase CUL4B, phosphorylase kinase PHKG2, and nuclear receptor activator SRA1.
Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.
Zhang et al., Houston, United States. In Genet Med, 2013
METHODS: A massively parallel sequencing test was developed for simultaneous sequencing of 16 genes known to cause muscle and liver forms of glycogen storage diseases: GYS2, GYS1, G6PC, SLC37A4, GAA, AGL, GBE1, PYGM, PYGL, PFKM, PHKA2, PHKB, PHKG2, PHKA1, PGAM2, and PGM1.
Aberrantly methylated genes in human papillary thyroid cancer and their association with BRAF/RAS mutation.
Kaneda et al., Tokyo, Japan. In Front Genet, 2012
Among 25 frequently methylated genes, methylation status of six genes (HIST1H3J, POU4F2, SHOX2, PHKG2, TLX3, HOXA7) was validated quantitatively by pyrosequencing.
Molecular markers of endometrial carcinoma detected in uterine aspirates.
Gil-Moreno et al., Barcelona, Spain. In Int J Cancer, 2011
We identified ACAA1, AP1M2, CGN, DDR1, EPS8L2, FASTKD1, GMIP, IKBKE, P2RX4, P4HB, PHKG2, PPFIBP2, PPP1R16A, RASSF7, RNF183, SIRT6, TJP3, EFEMP2, SOCS2 and DCN as differentially expressed in ECs.
Liver glycogen storage diseases due to phosphorylase system deficiencies: diagnosis thanks to non invasive blood enzymatic and molecular studies.
Baussan et al., Paris, France. In Mol Genet Metab, 2011
Causative mutations were found either in the PYGL (11 patients), PHKA2 (26 patients), PHKG2 (three patients) or in the PHKB (three patients) genes.
Phosphorylase Kinase Deficiency
Bali et al., Seattle, United States. In Unknown Journal, 2011
Mutations in PHKA1, encoding subunit α, cause the rare X-linked disorder muscle PhK deficiency; mutations in PHKA2, also encoding subunit α, cause the most common form, liver PhK deficiency (X-linked liver glycogenosis); mutations in PHKB, encoding subunit β, cause autosomal recessive PhK deficiency in both liver and muscle; and mutations in PHKG2, encoding subunit γ, cause autosomal recessive liver PhK deficiency.
Glycogen storage disease type IX: High variability in clinical phenotype.
Sharrard et al., Cambridge, United Kingdom. In Mol Genet Metab, 2007
PHKG2 mutations are associated with Glycogen storage disease type IX
Mutations in the testis/liver isoform of the phosphorylase kinase gamma subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans.
Kilimann et al., Bochum, Germany. In Nat Genet, 1996
We report here that autosomal liver-specific Phk deficiency is associated with mutations in the gene encoding the testis/liver isoform of the catalytic gamma subunit (PHKG2).
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