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PHKA1  -  phosphorylase kinase, alpha 1 (muscle)

Homo sapiens

 
 
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Disease relevance of PHKA1

  • Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases [1].
  • Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene [2].
 

High impact information on PHKA1

  • In contrast to the muscle isoform gene, PHKA1, the gene of this additional isoform, PHKA2, is predominantly expressed in liver and other nonmuscle tissues [3].
  • Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13 [4].
  • Only in one male patient did we find a PHKA1 missense mutation (D299V) that explains the enzyme deficiency [1].
  • In addition to mapping of the brain-specific gene (NAP1L2) and the phosphoglyceryl kinase alpha subunit 1 gene (PHKA1) and generation and mapping of a large number of STSs throughout the contig, we have mapped a putative transcriptional regulatory protein (HDACL1), and 35 ESTs [5].
  • Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13 [6].
 

Biological context of PHKA1

References

  1. 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]
  2. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.J. Am. J. Med. Genet. A (2005) [Pubmed]
  3. 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) [Pubmed]
  4. 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]
  5. Characterization of a highly complex region in Xq13 and mapping of three isodicentric breakpoints associated with preleukemia. McDonell, N., Ramser, J., Francis, F., Vinet, M.C., Rider, S., Sudbrak, R., Riesselman, L., Yaspo, M.L., Reinhardt, R., Monaco, A.P., Ross, F., Kahn, A., Kearney, L., Buckle, V., Chelly, J. Genomics (2000) [Pubmed]
  6. Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13. Gossen, M., Wüllrich, A., Kilimann, M.W. Hum. Genet. (1995) [Pubmed]
  7. Mapping of a liver phosphorylase kinase alpha-subunit gene on the mouse X chromosome. Geng, Y., Derry, J.M., Hendrickx, J., Coucke, P., Willems, P.R., Barnard, P.J. Genomics (1993) [Pubmed]
  8. Regional mapping of a liver alpha-subunit gene of phosphorylase kinase (PHKA) to the distal region of human chromosome Xp. Wauters, J.G., Bossuyt, P.J., Davidson, J., Hendrickx, J., Kilimann, M.W., Willems, P.J. Cytogenet. Cell Genet. (1992) [Pubmed]
  9. Assignment of the rabbit genes for alpha (PHKA) and beta (PHKB) phosphorylase kinase subunits. Debecker, A., Martin-DeLeon, P.A. Cytogenet. Cell Genet. (1992) [Pubmed]
 
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