Gene: PPARA

Alternate names for this Gene: NR1C1|PPAR|PPARalpha|hPPAR

Gene Summary: Peroxisome proliferators include hypolipidemic drugs, herbicides, leukotriene antagonists, and plasticizers; this term arises because they induce an increase in the size and number of peroxisomes. Peroxisomes are subcellular organelles found in plants and animals that contain enzymes for respiration and for cholesterol and lipid metabolism. The action of peroxisome proliferators is thought to be mediated via specific receptors, called PPARs, which belong to the steroid hormone receptor superfamily. PPARs affect the expression of target genes involved in cell proliferation, cell differentiation and in immune and inflammation responses. Three closely related subtypes (alpha, beta/delta, and gamma) have been identified. This gene encodes the subtype PPAR-alpha, which is a nuclear transcription factor. Multiple alternatively spliced transcript variants have been described for this gene, although the full-length nature of only two has been determined.

Gene is located in Chromosome: 22

Location in Chromosome : 22q13.31

Description of this Gene: peroxisome proliferator activated receptor alpha

Type of Gene: protein-coding

rs4253755 in PPARA gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4253755 in PPARA gene and Eosinophil count procedure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs4253624 in PPARA gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4253772 in PPARA gene and Low density lipoprotein cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs9626814 in PPARA gene and Narcolepsy PMID 19629137 2009 Genome-wide association database developed in the Japanese Integrated Database Project.

rs4253624 in PPARA gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs4253772 in PPARA gene and Serum LDL cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

rs4253772 in PPARA gene and Serum total cholesterol measurement PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.