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Gene Review

Phka2  -  phosphorylase kinase alpha 2

Mus musculus

Synonyms: 6330505C01Rik, D330034O08, Phk, Phosphorylase b kinase regulatory subunit alpha, liver isoform, Phosphorylase kinase alpha L subunit
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Disease relevance of Phka2

  • Heritable phosphorylase kinase (Phk) deficiency underlies a group of glycogenoses in humans, mice and rats that differ in mode of inheritance and tissue-specificity [1].

High impact information on Phka2

  • Both sequences map to the region of 10 centimorgan lying between the Tabby (Ta) and St14-1 (DxPas8) loci, close to the phosphorylase b kinase locus (Phk) [2].
  • This hypothesis is consistent with the proximity of the Phk and Pgk-1 loci on the mouse X chromosome [3].
  • RNA gel blot analysis reveals that the muscle gamma-Phk probe hybridizes to two mRNA species (2.4 and 1.6 kilobases) in skeletal muscle, cardiac muscle, and brain, but does not hybridize to liver RNA [4].
  • The gamma-Phk cDNA clones code for a 387-amino acid protein that shares 93% amino acid sequence identity with the corresponding rabbit amino acid sequence [4].
  • Rather, the gamma-Phk cross-hybridizing human restriction fragments map to human chromosomes 7 (multiple) and 11 (single) [4].

Biological context of Phka2


  1. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Schneider, A., Davidson, J.J., Wüllrich, A., Kilimann, M.W. Nat. Genet. (1993) [Pubmed]
  2. Localization of the region homologous to the Duchenne muscular dystrophy locus on the mouse X chromosome. Heilig, R., Lemaire, C., Mandel, J.L., Dandolo, L., Amar, L., Avner, P. Nature (1987) [Pubmed]
  3. 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) [Pubmed]
  4. Isolation of cDNA clones for the catalytic gamma subunit of mouse muscle phosphorylase kinase: expression of mRNA in normal and mutant Phk mice. Chamberlain, J.S., VanTuinen, P., Reeves, A.A., Philip, B.A., Caskey, C.T. Proc. Natl. Acad. Sci. U.S.A. (1987) [Pubmed]
  5. A B2 repeat insertion generates alternate structures of the mouse muscle gamma-phosphorylase kinase gene. Maichele, A.J., Farwell, N.J., Chamberlain, J.S. Genomics (1993) [Pubmed]
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