PPARA
peroxisome proliferator activated receptor alpha
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. [provided by RefSeq, Jul 2008]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4253623 | 22:46,550,106 | A/C | — | — |
| rs135551 | 22:46,553,021 | A/T | — | — |
| rs135549 | 22:46,553,308 | C/T | intron variant | — |
| rs135539 | 22:46,559,267 | C/A | intron variant | — |
| rs9626730 | 22:46,562,183 | T/C | intron variant | — |
| rs4253655 | 22:46,569,171 | G/A | intron variant | — |
| rs4253788 | 22:46,573,651 | C/T | intron variant | — |
| rs117490878 | 22:46,594,319 | A/G | — | likely benign |
| rs779797773 | 22:46,594,323 | G/C | — | uncertain significance |
| rs371347006 | 22:46,594,465 | G/T | — | uncertain significance |
| rs761216470 | 22:46,594,477 | C/T | — | uncertain significance |
| rs4253712 | 22:46,595,035 | A/G | intron variant | — |
| rs4823613 | 22:46,598,307 | A/G | intron variant | — |
| rs4253728 | 22:46,610,067 | G/A | intron variant | — |
| rs4253730 | 22:46,610,409 | A/G | intron variant | — |
| rs142150973 | 22:46,611,106 | C/T | — | likely benign |
| rs147010249 | 22:46,611,176 | C/T | — | likely benign |
| rs4253750 | 22:46,613,852 | T/C | intron variant | — |
| rs557774897 | 22:46,614,212 | G/A | — | uncertain significance |
| rs750956786 | 22:46,614,230 | A/G | — | uncertain significance |
| rs759044698 | 22:46,614,233 | A/G | — | uncertain significance |
| rs1800206 | 22:46,614,274 | C/G | missense variant | benign |
| rs149381846 | 22:46,615,750 | C/T | — | benign |
| rs1934855724 | 22:46,615,757 | C/T | — | uncertain significance |
| rs1188000241 | 22:46,615,801 | G/A | — | uncertain significance |
| rs1181648477 | 22:46,615,828 | A/C | — | uncertain significance |
| rs200757678 | 22:46,615,834 | G/A | — | conflicting classifications of pathogenicity |
| rs1934864005 | 22:46,615,856 | A/G | — | uncertain significance |
| rs1800234 | 22:46,615,880 | T/C | — | benign |
| rs1800235 | 22:46,615,905 | C/T | — | benign |
| rs60610697 | 22:46,619,870 | T/G | intron variant | — |
| rs6007662 | 22:46,621,045 | A/G | intron variant | — |
| rs374796059 | 22:46,624,286 | A/G | — | — |
| rs4253770 | 22:46,627,182 | G/C | intron variant | — |
| rs4253772 | 22:46,627,603 | C/T | intron variant | — |
| rs1042311 | 22:46,627,780 | C/T | — | likely benign |
| rs769733697 | 22:46,627,848 | G/A | — | uncertain significance |
| rs917522785 | 22:46,627,961 | C/T | — | likely benign |
| rs145265093 | 22:46,627,970 | G/A | — | likely benign |
| rs4253778 | 22:46,630,634 | G/C | intron variant | — |
| rs191032198 | 22:46,631,027 | T/C | — | likely benign |
| rs560283436 | 22:46,631,077 | G/A | — | uncertain significance |
| rs1367024881 | 22:46,631,219 | C/T | — | uncertain significance |
| rs1601834794 | 22:46,631,235 | G/A | — | likely benign |
| rs41378347 | 22:46,636,976 | G/A | downstream gene variant | — |
| rs10154348 | 22:46,638,159 | C/A | downstream gene variant | — |
| rs45552534 | 22:46,638,171 | G/A | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.