PPARGC1A
PPARGC1A (also known as Peroxisome proliferator-activated receptor gamma coactivator 1-alpha) is a gene that in humans is encoded by the PPARGC1A gene. It is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with the nuclear receptor PPAR-gamma, which permits the interaction of this protein with multiple transcription factors. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination.
Function[edit | edit source]
PPARGC1A is a transcriptional coactivator that regulates the genes involved in energy metabolism. It is the master regulator of mitochondrial biogenesis. This protein can interact with, and regulate the activities of, cAMP response element binding protein (CREB) and nuclear respiratory factors (NRFs). It provides a direct link between external physiological stimuli and the regulation of mitochondrial biogenesis, and is a major factor that regulates muscle fiber type determination.
Clinical significance[edit | edit source]
Mutations in the PPARGC1A gene have been associated with type 2 diabetes, obesity, and hypertension. It has also been implicated in the pathogenesis of Huntington's disease and Parkinson's disease.
See also[edit | edit source]
- Peroxisome proliferator-activated receptor gamma
- Nuclear receptor
- Transcription factor
- Mitochondrial biogenesis
References[edit | edit source]
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