PPARGC1A (Q9UBK2) variants and mutations

PPARGC1A (also known as Q9UBK2) is a human protein-coding gene encoding a peroxisome proliferator-activated receptor gamma coactivator 1-alpha protein. It coactivates transcriptional programs for mitochondrial biogenesis, oxidative metabolism, thermogenesis, and endurance adaptation. Altered activity is implicated in metabolic, cardiovascular, and neurodegenerative disease, although highly penetrant monogenic disorders are uncommon. This analysis covers 1,146 PPARGC1A variants and mutations. Of these, 83% have computational variant effect predictions. Disease context includes heart conduction disease, Left bundle branch block, and amyotrophic lateral sclerosis. Example PPARGC1A variants include A2V, W3L, and W3R.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable PPARGC1A variants

Examples include A2V, W3L, W3R, D4N, D4V, M5K, M5T, C6G. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.