The PPAR gene located on chromosome 3 p25.2 codes for a member of the peroxisome proliferator activated receptor (PPAR) subfamily. PPARs form heterodimers with retinoid X receptors (RXRs). These heterodimers regulate the transcription of various genes. There are 3 known subtypes of PPARs: PPARα, PPARß and PPARƴ.
PPARƴist is a receptor protein which belongs together with PPARα [NR1C1] and PPARß [NR1C2] to the superfamily of cytosolic steroid receptors. PPARƴ acts as a ligand-activated transcription factor and is ubiquitously expressed. Both saturated and unsaturated fatty acids, eicosanoids and prostaglandins have been identified as natural ligands of the encoded protein.
Mutations and polymorphisms of the PPAR gamma protein are known to be associated with various diseases:
- Carotide intimal medial thickness 1 OMIM: 609338 (Wang X L et al. 1999)
- Insulin resistance, severe, digenic OMIM: 604367 (Savage DB et al. 2002)
- Partial familial lipodystrophy type 3 OIMI:604367 (Ludtke A et al. 2007)
- Obesity, severe OMIM: 601665
- Colon carcinoma OMIM:164790