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Gene Review

PRKAG3  -  protein kinase, AMP-activated, gamma 3 non...

Homo sapiens

Synonyms: 5'-AMP-activated protein kinase subunit gamma-3, AMPK gamma3, AMPK subunit gamma-3, AMPKG3
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Disease relevance of PRKAG3

  • The screening of a major part of the PRKAG3 coding sequence in a small case/control material of horses affected with polysaccharide storage myopathy did not reveal any mutation that was exclusively associated with this muscle storage disease [1].

High impact information on PRKAG3

  • A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle [2].
  • Here, it is shown that the mutation is a nonconservative substitution (R200Q) in the PRKAG3 gene, which encodes a muscle-specific isoform of the regulatory gamma subunit of adenosine monophosphate-activated protein kinase (AMPK) [2].
  • The PRKAA2 subunit was detected in granulosa cells and COC, whereas the PRKAG3 subunit was not detected in granulosa cells, COC or DO, whereas it was detected in the heart [3].
  • The contig was constructed as part of a successful positional cloning project, which identified PRKAG3 as the causative gene for the RN phenotype [4].
  • PRKAB2 and PRKAG3, however, have not been mapped in humans [5].

Biological context of PRKAG3


  1. Molecular characterization and mutational screening of the PRKAG3 gene in the horse. Park, H.B., Marklund, S., Jeon, J.T., Mickelson, J.R., Valberg, S.J., Sandberg, K., Andersson, L. Cytogenet. Genome Res. (2003) [Pubmed]
  2. A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle. Milan, D., Jeon, J.T., Looft, C., Amarger, V., Robic, A., Thelander, M., Rogel-Gaillard, C., Paul, S., Iannuccelli, N., Rask, L., Ronne, H., Lundström, K., Reinsch, N., Gellin, J., Kalm, E., Roy, P.L., Chardon, P., Andersson, L. Science (2000) [Pubmed]
  3. Adenosine 5'-Monophosphate Kinase-Activated Protein Kinase (PRKA) Activators Delay Meiotic Resumption in Porcine Oocytes. Mayes, M.A., Laforest, M.F., Guillemette, C., Gilchrist, R.B., Richard, F.J. Biol. Reprod. (2007) [Pubmed]
  4. Comparative analysis of a BAC contig of the porcine RN region and the human transcript map: implications for the cloning of trait loci. Jeon, J.T., Amarger, V., Rogel-Gaillard, C., Robic, A., Bongcam-Rudloff, E., Paul, S., Looft, C., Milan, D., Chardon, P., Andersson, L. Genomics (2001) [Pubmed]
  5. The bovine 5' AMPK gene family: mapping and single nucleotide polymorphism detection. McKay, S.D., White, S.N., Kata, S.R., Loan, R., Womack, J.E. Mamm. Genome (2003) [Pubmed]
  6. Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exons. Amarger, V., Erlandsson, R., Pielberg, G., Jeon, J.T., Andersson, L. Cytogenet. Genome Res. (2003) [Pubmed]
  7. A genome scan for loci affecting pork quality in a Duroc-Landrace F population. Rohrer, G.A., Thallman, R.M., Shackelford, S., Wheeler, T., Koohmaraie, M. Anim. Genet. (2006) [Pubmed]
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