PPARGC1A

Full Name: PPARG Coactivator 1 Alpha

Genomic Location: Chromosome 4:23,755,041-24,472,771

Protein Size: 798 amino acids

Function:

Transcriptional coactivator for steroid receptors and nuclear receptors. Greatly increases the transcriptional activity of PPARG and thyroid hormone receptor on the uncoupling protein promoter. Can regulate key mitochondrial genes that contribute to the program of adaptive thermogenesis. Plays an essential role in metabolic reprogramming in response to dietary availability through coordination of the expression of a wide array of genes involved in glucose and fatty acid metabolism. Induces the expression of PERM1 in the skeletal muscle in an ESRRA-dependent manner. Also involved in the integration of the circadian rhythms and energy metabolism. Required for oscillatory expression of clock genes, such as ARNTL/BMAL1 and NR1D1, through the coactivation of RORA and RORC, and metabolic genes, such as PDK4 and PEPCK.

Linked SNP(s):

  • rs8192678 is linked to PPARGC1A, it is located in a complicated alternate splice region.
  • Population frequencies are approximately 70% for the reference allele (G) and 30% for the alternate allele (A).
  • Studies suggest the G allele is associated with increased endurance performance.
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