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

• Additionally, one synonymous and one non-synonymous single nucleotide polymorphism (SNP) were detected in PRKAG3 in Bos taurus cattle [5].
• A comparison of these PRKAG3 sequences and the human sequence was conducted and used to predict evolutionarily conserved regions, including regulatory regions [6].
• Comparative sequence analysis of the PRKAG3 region between human and pig: evolution of repetitive sequences and potential new exons [6].
• For certain analyses carcass weight, RYR1 genotype and/or PRKAG3 genotype were also included as covariates [7].

References