What is the prkag2 gene?
The protein kinase, AMP-activated, gamma 2 non-catalytic subunit (prkag2) gene is located on the long arm of human chromosome 7 at position 36.1. It's molecular location is specifically between base pair 151,253,199 to 151,574,315 on chromosome 7. The prkag2 gene is believed to provide instructions for making one part (the gamma-2 subunit) of a larger protein known as the AMP-activated protein kinase (AMPK) (Accession Number: NP_057287.2) [1]. AMPK is a heterotrimeric protein composed of a catalytic subunit (alpha) and two regulatory subunits (beta and gamma) [2]. The gamma subunit of this protein is involved in sensing and responding to energy demands within the cell, regulating chemical pathways involved in the cell's main energy source (ATP), controlling the activity of other genes, and regulating the activity of certain ion channels in the heart. AAKG2 is active in many different areas of the cell, most specifically the cardiac and skeletal muscles [1].
Most patients have no family history of a prkag2 gene mutation, yet a small percentage of occurrences are due to an autosomal dominant pattern of inheritance of the gene. Inheritance of one of the seven known missense mutations of the prkag2 may result in Wolff-Parkinson-White syndrome. Mutation of the prkag2 gene could also result in cardiomyopathy, familial hypertrophic type 6 (CMH6) [3], or glycogen storage disease of heart leathal congentital (GSDH) [4].
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References
[1] Ahmad, F., Arad, M., Musi, N., et al. (2005). Increased alpha2 subunit-associated with AMPK activity and PRKAG2 cardiomyopathy. Circulation, 112(20): 3140-8. doi: 10.1161/CIRCULATIONAHA.105.550806
[2] http://www.ncbi.nlm.nih.gov/gene?db=gene&cmd=Retrieve&dopt=full_report&list_uids=51422
[3] Blair, E., Redwood, C., Ashraflan, H., et al. (2001). Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyoptahy: evidence for the central role of energy compromise in disease pathogenesis. Human Molecular Genetics, 10(11): 1215-20. doi: 10.1093/hmg/10.11.1215
[4] Burwinkel, B., Scott, J.W., Buhrer, C., et al. (2005). Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. The American Journal of Human Genetics, 76(6): 1034-49. doi: 10.1086/430840
[2] http://www.ncbi.nlm.nih.gov/gene?db=gene&cmd=Retrieve&dopt=full_report&list_uids=51422
[3] Blair, E., Redwood, C., Ashraflan, H., et al. (2001). Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyoptahy: evidence for the central role of energy compromise in disease pathogenesis. Human Molecular Genetics, 10(11): 1215-20. doi: 10.1093/hmg/10.11.1215
[4] Burwinkel, B., Scott, J.W., Buhrer, C., et al. (2005). Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. The American Journal of Human Genetics, 76(6): 1034-49. doi: 10.1086/430840
Margaret Beatka ([email protected])
Page Last Updated: 5/10/13
This web page was produced as an assignment for Genetics 677, as an undergraduate course at UW-Madison.
Page Last Updated: 5/10/13
This web page was produced as an assignment for Genetics 677, as an undergraduate course at UW-Madison.