DISEASES

Disease-gene associations mined from literature

Literature associating PPARGC1A and acute porphyria

PPARGC1A [ENSP00000264867]

Peroxisome proliferator-activated receptor gamma coactivator 1-alpha; 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. ECO:0000269|PubMed:20005308, ECO:0000269|PubMed:21376232,

Synonyms:  PPARGC1A,  A0A024R9Q9,  A0A087WTJ3,  A0A087WVW3,  D6RBF3 ...

Linkouts:  STRING  Pharos  UniProt  OMIM