Gene Review:
PHKA2 - phosphorylase kinase, alpha 2 (liver)
Homo sapiens
Synonyms:
GSD9A, PHK, PHKLA, PYK, PYKL, ...
- cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis. Davidson, J.J., Ozçelik, T., Hamacher, C., Willems, P.J., Francke, U., Kilimann, M.W. Proc. Natl. Acad. Sci. U.S.A. (1992)
- X-linked liver glycogenosis: localization and isolation of a candidate gene. Hendrickx, J., Coucke, P., Bossuyt, P., Wauters, J., Raeymaekers, P., Marchau, F., Smit, G.P., Stolte, I., Sardharwalla, I.B., Berthelot, J. Hum. Mol. Genet. (1993)
- X-linked liver glycogenosis type II (XLG II) is caused by mutations in PHKA2, the gene encoding the liver alpha subunit of phosphorylase kinase. Hendrickx, J., Dams, E., Coucke, P., Lee, P., Fernandes, J., Willems, P.J. Hum. Mol. Genet. (1996)
- Allergic reactions to Japanese encephalitis vaccine. Plesner, A.M. Immunology and allergy clinics of North America. (2003)
- The crystal structure of a phosphorylase kinase peptide substrate complex: kinase substrate recognition. Lowe, E.D., Noble, M.E., Skamnaki, V.T., Oikonomakos, N.G., Owen, D.J., Johnson, L.N. EMBO J. (1997)
- Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II. Hendrickx, J., Lee, P., Keating, J.P., Carton, D., Sardharwalla, I.B., Tuchman, M., Baussan, C., Willems, P.J. Am. J. Hum. Genet. (1999)
- Mutation hotspots in the PHKA2 gene in X-linked liver glycogenosis due to phosphorylase kinase deficiency with atypical activity in blood cells (XLG2). Burwinkel, B., Shin, Y.S., Bakker, H.D., Deutsch, J., Lozano, M.J., Maire, I., Kilimann, M.W. Hum. Mol. Genet. (1996)
- Clinical, biochemical and molecular findings in a patient with X-linked liver glycogenosis followed for 40 years. Hendrickx, J., Bosshard, N.U., Willems, P., Gitzelmann, R. Eur. J. Pediatr. (1998)
- Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odièvre, M., Corbeel, L., Fernandes, J.F., Willems, P.J. Hum. Mol. Genet. (1995)
- Variability of biochemical and clinical phenotype in X-linked liver glycogenosis with mutations in the phosphorylase kinase PHKA2 gene. Burwinkel, B., Amat, L., Gray, R.G., Matsuo, N., Muroya, K., Narisawa, K., Sokol, R.J., Vilaseca, M.A., Kilimann, M.W. Hum. Genet. (1998)
- Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2). Hendrickx, J., Coucke, P., Hors-Cayla, M.C., Smit, G.P., Shin, Y.S., Deutsch, J., Smeitink, J., Berger, R., Lee, P., Fernandes, J. Genomics (1994)
- Analysis of the expression of seven G protein alpha subunit genes in hematopoietic cells. Matsuoka, M., Kaziro, Y., Asano, S., Ogata, E. Am. J. Med. Sci. (1993)
- Isolation of cDNA encoding the human liver phosphorylase kinase alpha subunit (PHKA2) and identification of a missense mutation of the PHKA2 gene in a family with liver phosphorylase kinase deficiency. Hirono, H., Hayasaka, K., Sato, W., Takahashi, T., Takada, G. Biochem. Mol. Biol. Int. (1995)
- Pharmacokinetics of ketorolac and p-hydroxyketorolac following oral and intramuscular administration of ketorolac tromethamine. Jung, D., Mroszczak, E.J., Wu, A., Ling, T.L., Sevelius, H., Bynum, L. Pharm. Res. (1989)
- Ketorolac tromethamine pharmacokinetics and metabolism after intravenous, intramuscular, and oral administration in humans and animals. Mroszczak, E.J., Jung, D., Yee, J., Bynum, L., Sevelius, H., Massey, I. Pharmacotherapy (1990)
- Plasma, urinary and fecal potassium changes in athletes during ambulatory, periodic, and continuous hypokinetic conditions. Zorbas, Y.G., Kakurin, V.J., Afonin, V.B., Charapakhin, K.P., Yarullin, V.L., Deogenov, V.A. Clin. Biochem. (2000)
- 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)
- A 6-Mb YAC contig in Xp22.1-p22.2 spanning the DXS69E, XE59, GLRA2, PIGA, GRPR, CALB3, and PHKA2 genes. Alitalo, T., Francis, F., Kere, J., Lehrach, H., Schlessinger, D., Willard, H.F. Genomics (1995)
- Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13. Francke, U., Darras, B.T., Zander, N.F., Kilimann, M.W. Am. J. Hum. Genet. (1989)
- Detection of PHKA2 gene mutation in four Japanese patients with hepatic phosphorylase kinase deficiency. Ban, K., Sugiyama, K., Goto, K., Mizutani, F., Togari, H. Tohoku J. Exp. Med. (2003)