Full Name: Peroxisome Proliferator Activated Receptor Alpha
Genomic Location: Chromosome 22:46,150,521-46,243,756
Protein Size: 468 amino acids
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.
- rs4253778 is linked to PPARA, it is located in an intronic region.
- Population frequencies are approximately 79% for the reference allele (G) and 31% for the alternate allele (C).
- Studies suggest the G allele is associated with endurance sports.