PPARGC1A
Chr 4PPARG coactivator 1 alpha
Also known as: LEM6, PGC-1(alpha), PGC-1alpha, PGC-1v, PGC1, PGC1A, PPARGC1
The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, 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. This protein may be also involved in controlling blood pressure, regulating cellular cholesterol homoeostasis, and the development of obesity. [provided by RefSeq, Jul 2008]
Clinical highlights
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PPARGC1A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Effect of Exercise Type on Muscle Quality in Patients With OA, SARC and RA: an Explorative Study
NOT YET RECRUITINGRegulation of Mucosal Healing in Inflammatory Bowel Disease
RECRUITINGOnco Move - Improvement of Psychophysical Fitness in Adult Cancer Survivors
NOT YET RECRUITINGMultilevel Exercise Response in Rowers
NOT YET RECRUITINGExternal Resources
Links to major genomics databases and tools