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SKELETAL MUSCLE GLYCOGEN CONTENT AND METABOLISM QUANTITATIVE TRAIT LOCUS(SMGMQTL)

MedGen UID:
1748381
Concept ID:
C5436642
Finding
Synonym: SMGMQTL
 
Gene (location): PRKAG3 (2q35)
 
OMIM®: 619030

Definition

AMPK is a heterotrimeric protein that functions to maintain cellular and whole body energy homeostasis. Variation in the PRKAG3 subunit of AMPK has been linked to an increase in muscle glycogen content in pigs (Milan et al., 2000), mice (Garcia-Roves et al. (2008)), and humans (Costford et al., 2007). [from OMIM]

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