Hormone sensing transcription factor PPARG
The gene product is a hormone sensing transcription factor. Mutations cause autosomal dominant partial lipodystrophy type 3. Diseases associated with variations include glioma susceptibility 1, obesity, diabetes, and insulin resistance. Somatic mutations are observed in colon cancer cells.
Genetests:
Related Diseases:
References:
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Hansen SK et al. (2005) Analysis of separate and combined effects of common variation in KCNJ11 and PPARG on risk of type 2 diabetes.
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Doney AS et al. (2004) Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to Type 2 diabetes.
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Doney AS et al. (2004) Cardiovascular risk in type 2 diabetes is associated with variation at the PPARG locus: a Go-DARTS study.
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Zeggini E et al. (2005) Examining the relationships between the Pro12Ala variant in PPARG and Type 2 diabetes-related traits in UK samples.
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Pihlajamäki J et al. (2000) The Pro12A1a substitution in the peroxisome proliferator activated receptor gamma 2 is associated with an insulin-sensitive phenotype in families with familial combined hyperlipidemia and in nondiabetic elderly subjects with dyslipidemia.
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Eurlings PM et al. (2003) Variants in the PPARgamma gene affect fatty acid and glycerol metabolism in familial combined hyperlipidemia.
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OMIM.ORG article
Omim 601487
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Orphanet article
Orphanet ID 117964
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NCBI article
NCBI 5468
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Wikipedia article
Wikipedia EN (Peroxisome_proliferator-activated_receptor_gamma)
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Update: Aug. 14, 2020