Version: 8.0.0Date: Tue Jan 28 2025
Gene
PPARA
- Species
- Homo sapiens
- Symbol
- PPARA
- Name
- peroxisome proliferator activated receptor alpha
- Synonyms
- hPPAR
- MGC2237
- Biotype
- protein coding gene
- Automated Description
- Enables several functions, including DNA-binding transcription factor activity, RNA polymerase II-specific; RNA polymerase II cis-regulatory region sequence-specific DNA binding activity; and ubiquitin conjugating enzyme binding activity. Involved in several processes, including negative regulation of lipid storage; negative regulation of macrophage derived foam cell differentiation; and regulation of primary metabolic process. Acts upstream of or within negative regulation of phosphatidylinositol 3-kinase/protein kinase B signal transduction and negative regulation of transforming growth factor beta receptor signaling pathway. Located in nucleoplasm. Is active in nucleus. Implicated in Alzheimer's disease; coronary artery disease; hepatocellular carcinoma; lipid metabolism disorder; and myocardial infarction. Biomarker of cystic fibrosis and steatotic liver disease.
- RGD Description
- 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]
- Cross References
- Additional Information
- Literature
Orthology
- Gene tree
- PANTHER:PTHR24082
Links to orthology data in JBrowse by filter level: Stringent, Moderate, No filter, Best and Best Reverse
Phenotypes
- Primary Sources
- None
- Other Sources
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Disease Associations
Cases where the expected disease association was NOT found
Cell color indicative of annotation volume
No data available
Alleles and Variants
Allele/Variant Symbol | Allele Synonyms | Category | Variant | Variant type | Molecular consequence | Has Disease Annotations | Has Phenotype Annotations |
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Transgenic Alleles
Species (carrying the transgene) | Allele symbol | Transgenic construct | Expressed components | Knock-down targets | Regulatory regions | Has Disease Annotations | Has Phenotype Annotations |
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Models
Model name | Experimental condition | Associated Human Diseases | Associated Phenotypes | Modifier | Source |
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Sequence Feature Viewer
- Genome location
- Chr22:46150521...46243756 + (93.24 kb)
- Assembly version
- GRCh38
- Viewer Help
Data currently unavailable; sequence viewer under construction
Expression
- Primary Sources
- None
- Other Sources
Cell color indicative of annotation volume; red slash indicates species lacks structure or developmental stage.