Gene: PPARGC1A

Alternate names for this Gene: LEM6|PGC-1(alpha)|PGC-1alpha|PGC-1v|PGC1|PGC1A|PPARGC1

Gene Summary: 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.

Gene is located in Chromosome: 4

Location in Chromosome : 4p15.2

Description of this Gene: PPARG coactivator 1 alpha

Type of Gene: protein-coding

rs687706 in PPARGC1A gene and Adolescent idiopathic scoliosis PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs4568225 in PPARGC1A gene and Amyotrophic Lateral Sclerosis PMID 17362836 2007 Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data.

rs12501032 in PPARGC1A gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs17590046 in PPARGC1A gene and Essential Tremor PMID 27797806 2016 Genome-wide association study in essential tremor identifies three new loci.

rs7667050 in PPARGC1A gene and Glomerular Filtration Rate PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

rs12501032 in PPARGC1A gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs188794202 in PPARGC1A gene and Impaired cognition PMID 26252872 2015 Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aβ1-42 Level.

rs10020457 in PPARGC1A gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs12501032 in PPARGC1A gene and RESTING HEART RATE PMID 27798624 2016 Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.

rs2970870 in PPARGC1A gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs34751092 in PPARGC1A gene and Regular astigmatism - corneal PMID 29422769 2018 A genome-wide association study of corneal astigmatism: The CREAM Consortium.

rs687706 in PPARGC1A gene and SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 PMID 30019117 2018 The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.

rs11730701 in PPARGC1A gene and Schizophrenia PMID 26198764 2015 Genome-wide association study of schizophrenia in Ashkenazi Jews.

rs12650199 in PPARGC1A gene and Serum albumin measurement PMID 23281178 2013 A genome-wide assessment of variability in human serum metabolism.