What is the official name of the PPARG gene?
The official name of this gene is “peroxisome proliferator-activated receptor gamma.”
PPARG is the gene's official symbol. The PPARG gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the PPARG gene?
- From NCBI Gene:
This gene encodes a member of the peroxisome proliferator-activated receptor (PPAR) subfamily of nuclear receptors. PPARs form heterodimers with retinoid X receptors (RXRs) and these heterodimers regulate transcription of various genes. Three subtypes of PPARs are known: PPAR-alpha, PPAR-delta, and PPAR-gamma. The protein encoded by this gene is PPAR-gamma and is a regulator of adipocyte differentiation. Additionally, PPAR-gamma has been implicated in the pathology of numerous diseases including obesity, diabetes, atherosclerosis and cancer. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Jul 2008]
- From UniProt:
Nuclear receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the nuclear receptor binds to DNA specific PPAR response elements (PPRE) and modulates the transcription of its target genes, such as acyl-CoA oxidase. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. ARF6 acts as a key regulator of the tissue-specific adipocyte P2 (aP2) enhancer. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. Plays a role in the regulation of cardiovascular circadian rhythms by regulating the transcription of ARNTL/BMAL1 in the blood vessels.
How are changes in the PPARG gene related to health conditions?
- UniProt provides the following information about the PPARG gene's known or predicted involvement in human disease.
Defects in PPARG can lead to type 2 insulin-resistant diabetes and hyptertension. PPARG mutations may be associated with colon cancer.
Obesity (OBESITY): A condition characterized by an increase of body weight beyond the limitation of skeletal and physical requirements, as the result of excessive accumulation of body fat. Disease susceptibility may be associated with variations affecting the gene represented in this entry.
Lipodystrophy, familial partial, 3 (FPLD3): A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. The disease is caused by mutations affecting the gene represented in this entry.
Glioma 1 (GLM1): Gliomas are benign or malignant central nervous system neoplasms derived from glial cells. They comprise astrocytomas and glioblastoma multiforme that are derived from astrocytes, oligodendrogliomas derived from oligodendrocytes and ependymomas derived from ependymocytes. Disease susceptibility may be associated with variations affecting the gene represented in this entry. Polymorphic PPARG alleles have been found to be significantly over-represented among a cohort of American patients with sporadic glioblastoma multiforme suggesting a possible contribution to disease susceptibility.
- NCBI Gene lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the PPARG gene.
- Carotid intimal medial thickness 1
- Diabetes mellitus type 2
- Lipodystrophy, familial partial, type 3
- OMIM.org, a catalog designed for genetics professionals and researchers, provides the following information about the PPARG gene and its association with health conditions.
Where is the PPARG gene located?
Cytogenetic Location: 3p25
Molecular Location on chromosome 3: base pairs 12,287,849 to 12,471,012
The PPARG gene is located on the short (p) arm of chromosome 3 at position 25.
More precisely, the PPARG gene is located from base pair 12,287,849 to base pair 12,471,012 on chromosome 3.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about PPARG?
You and your healthcare professional may find the following resources about PPARG helpful.
- Genetic Testing Registry - Repository of genetic test information
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- OMIM - Genetic disorder catalog
- Research Resources - Tools for researchers
What other names do people use for the PPARG gene or gene products?
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding PPARG?
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? in the Handbook.