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    PRKAG3 protein kinase AMP-activated non-catalytic subunit gamma 3 [ Homo sapiens (human) ]

    Gene ID: 53632, updated on 14-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The human AMPKgamma3 R225W mutation negatively impacts site-1 nucleotide binding and does not enhance basal AMPKgamma3-associated activity nor glycogen production in human or mouse skeletal muscle.

    The human AMPKγ3 R225W mutation negatively impacts site-1 nucleotide binding and does not enhance basal AMPKγ3-associated activity nor glycogen production in human or mouse skeletal muscle.
    Eskesen NO, Kjøbsted R, Birk JB, Henriksen NS, Andersen NR, Ringholm S, Pilegaard H, Wojtaszewski JFP.

    10/2/2024
    AMPKgamma3 Controls Muscle Glucose Uptake in Recovery From Exercise to Recapture Energy Stores.

    AMPKγ3 Controls Muscle Glucose Uptake in Recovery From Exercise to Recapture Energy Stores.
    Kido K, Eskesen NO, Henriksen NS, Onslev J, Kristensen JM, Larsen MR, Hingst JR, Knudsen JR, Birk JB, Andersen NR, Jensen TE, Pehmøller C, Wojtaszewski JFP, Kjøbsted R., Free PMC Article

    09/27/2023
    PRKAG3-230 may be associated with sporadic Wolff-Parkinson-White (WPW) syndrome in a Taiwanese population.

    PRKAG3 polymorphisms associated with sporadic Wolff-Parkinson-White syndrome among a Taiwanese population.
    Weng KP, Yuh YS, Huang SH, Hsiao HC, Wu HW, Chien JH, Chen BH, Huang SM, Chien KJ, Ger LP.

    10/28/2017
    The mTOR pathway was significantly associated with overall and estrogen receptor-negative (ER-) breast cancer risk (P = 0.003 and 0.03, respectively). PRKAG3 (Padj = 0.0018) and RPS6KA3 (Padj = 0.061) were the leading genes for the associations with overall breast cancer risk and ER- breast cancer risk, respectively.

    Association of breast cancer risk and the mTOR pathway in women of African ancestry in 'The Root' Consortium.
    Wang S, Huo D, Ogundiran TO, Ojengbede O, Zheng W, Nathanson KL, Nemesure B, Ambs S, Olopade OI, Zheng Y., Free PMC Article

    10/7/2017
    Data suggest different gamma-isoforms in AMPK can have different effects on enzyme activation; here, activation of AMPK by compound 991 is greater if AMPK contains PRKAG2 versus PRKAG1 or PRKAG3.

    Effect of different γ-subunit isoforms on the regulation of AMPK.
    Willows R, Navaratnam N, Lima A, Read J, Carling D., Free PMC Article

    06/24/2017
    Low PRKAA2 expression is associated with follicular lymphoma.

    Association of AMP-activated protein kinase with risk and progression of non-Hodgkin lymphoma.
    Hoffman AE, Demanelis K, Fu A, Zheng T, Zhu Y., Free PMC Article

    11/2/2013
    Through the enhancement of skeletal muscle glucose uptake and increased mitochondrial content, the R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)gamma(3)may significantly enhance exercise performance.

    Naturally occurring R225W mutation of the gene encoding AMP-activated protein kinase (AMPK)gamma(3) results in increased oxidative capacity and glucose uptake in human primary myotubes.
    Crawford SA, Costford SR, Aguer C, Thomas SC, deKemp RA, DaSilva JN, Lafontaine D, Kendall M, Dent R, Beanlands RS, McPherson R, Harper ME.

    11/6/2010
    Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
    Jablonski KA, McAteer JB, de Bakker PI, Franks PW, Pollin TI, Hanson RL, Saxena R, Fowler S, Shuldiner AR, Knowler WC, Altshuler D, Florez JC, Diabetes Prevention Program Research Group., Free PMC Article

    09/15/2010
    Purification and characterization of truncated human AMPK alpha 2 beta 2 gamma 3 heterotrimer from baculovirus-infected insect cells

    Purification and characterization of truncated human AMPK alpha 2 beta 2 gamma 3 heterotrimer from baculovirus-infected insect cells.
    Ramanathan L, Sheth PR, Ogas P, Xiao L, Le HV.

    06/28/2010
    Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)

    Integrative predictive model of coronary artery calcification in atherosclerosis.
    McGeachie M, Ramoni RL, Mychaleckyj JC, Furie KL, Dreyfuss JM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich S, Sale M, Ramoni MF., Free PMC Article

    04/7/2010
    identified for the first time a mutation in the skeletal muscle-specific regulatory gamma(3) subunit of AMPK in humans

    Gain-of-function R225W mutation in human AMPKgamma(3) causing increased glycogen and decreased triglyceride in skeletal muscle.
    Costford SR, Kavaslar N, Ahituv N, Chaudhry SN, Schackwitz WS, Dent R, Pennacchio LA, McPherson R, Harper ME., Free PMC Article

    01/25/2010
    Variants in genes for AMPKalpha2 and AMPKgamma3 were not associated with PCOS or its component traits.

    Association study of AMP-activated protein kinase subunit genes in polycystic ovary syndrome.
    Sproul K, Jones MR, Azziz R, Goodarzi MO., Free PMC Article

    01/21/2010
    Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)See all PubMed (2) articles

    Association study of energy homeostasis genes and antipsychotic-induced weight gain in patients with schizophrenia.
    Jassim G, Fernø J, Theisen FM, Haberhausen M, Christoforou A, Håvik B, Gebhardt S, Remschmidt H, Mehler-Wex C, Hebebrand J, Lehellard S, Steen VM.

    Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone.
    Ruaño G, Bernene J, Windemuth A, Bower B, Wencker D, Seip RL, Kocherla M, Holford TR, Petit WA, Hanks S.

    03/25/2009
    Observational study of gene-disease association. (HuGE Navigator)See all PubMed (2) articles

    Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
    Flachsbart F, Franke A, Kleindorp R, Caliebe A, Blanché H, Schreiber S, Nebel A.

    Role of AMP-activated protein kinase gamma 3 genetic variability in glucose and lipid metabolism in non-diabetic whites.
    Weyrich P, Machicao F, Staiger H, Simon P, Thamer C, Machann J, Schick F, Guirguis A, Fritsche A, Stefan N, Häring HU, Weyrich P, Machicao F, Staiger H, Simon P, Thamer C, Machann J, Schick F, Guirguis A, Fritsche A, Stefan N, Häring HU.

    03/13/2008
    Genetic variability in PRKAG3 does not seem to have a major effect on glucose metabolism, but play a role in lipoprotein metabolism in humans.

    Role of AMP-activated protein kinase gamma 3 genetic variability in glucose and lipid metabolism in non-diabetic whites.
    Weyrich P, Machicao F, Staiger H, Simon P, Thamer C, Machann J, Schick F, Guirguis A, Fritsche A, Stefan N, Häring HU, Weyrich P, Machicao F, Staiger H, Simon P, Thamer C, Machann J, Schick F, Guirguis A, Fritsche A, Stefan N, Häring HU.

    01/21/2010
    the observation that the AMPKgamma3 isoform is expressed primarily in white skeletal muscle, in which it is the predominant gamma-isoform, strongly suggests that gamma3 has a key role in this tissue

    Expression profiling of the gamma-subunit isoforms of AMP-activated protein kinase suggests a major role for gamma3 in white skeletal muscle.
    Mahlapuu M, Johansson C, Lindgren K, Hjälm G, Barnes BR, Krook A, Zierath JR, Andersson L, Marklund S.

    01/21/2010
    data show that different mutations in gamma3 exert different effects on allosteric regulation of alpha2beta2gamma3 complex by AMP, whereas we find no evidence for their role in regulating the level of phosphorylation of alpha2 by upstream kinases.

    Regulation of the muscle-specific AMP-activated protein kinase alpha2beta2gamma3 complexes by AMP and implications of the mutations in the gamma3-subunit for the AMP dependence of the enzyme.
    Lindgren K, Ormestad M, Persson M, Martinsson S, Svensson LT, Mahlapuu M.

    01/21/2010
    role of the AMPKgamma3 isoform in exercise-induced metabolic and gene regulatory responses in skeletal muscle

    Changes in exercise-induced gene expression in 5'-AMP-activated protein kinase gamma3-null and gamma3 R225Q transgenic mice.
    Barnes BR, Long YC, Steiler TL, Leng Y, Galuska D, Wojtaszewski JF, Andersson L, Zierath JR.

    01/21/2010
    Functional analysis of the pig counterpart.

    A mutation in PRKAG3 associated with excess glycogen content in pig skeletal muscle.
    Milan D, Jeon JT, 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 PL, Chardon P, Andersson L.

    05/3/2004
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