PPARA Chromosome 22

Peroxisome proliferator activated receptor alpha
1 variant 1 Health Risk

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What This Gene Does
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. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Peroxisome proliferator activated receptors
Locus Type
gene with protein product
Location
22q13.31
Ensembl
ENSG00000186951
Key Variants
All Variants (1)
RSID Category Clinical Significance Conditions
RS200757678 Health Risk Conflicting classifications of pathogenicity
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