PPARG基因

PPARG The information on this page was automatically extracted from online scientific databases. On this page:   Name  Normal function  Genetic changes  Gene location  Additional information Other names  About genes  Glossary definitions 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 Entrez 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: Receptor that binds peroxisome proliferators such as hypolipidemic drugs and fatty acids. Once activated by a ligand, the receptor binds to a promoter element in the gene for acyl-CoA oxidase and activates its transcription. It therefore controls the peroxisomal beta-oxidation pathway of fatty acids. Key regulator of adipocyte differentiation and glucose homeostasis. Acts as a critical regulator of gut homeostasis by suppressing NF-kappa-B-mediated proinflammatory responses. 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. Disease susceptibility may be associated with variations affecting the gene represented in this entry. The disease is caused by mutations affecting the gene represented in this entry. 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. Entrez 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[1] Diabetes mellitus type 2[2] Lipodystrophy, familial partial, type 3[3] Obesity[4] UniProt and Entrez Gene cite these articles in OMIM, a catalog designed for genetics professionals and researchers that provides detailed information about genetic conditions and genes.   Article Number Main Topic [1] 609338 CAROTID INTIMAL MEDIAL THICKNESS 1 [2] 125853 DIABETES MELLITUS, NONINSULIN-DEPENDENT [3] 604367 LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 [4] 601665 OBESITY LEANNESS, INCLUDED 601487 PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA Where is the PPARG gene located? Cytogenetic Location: 3p25 Molecular Location on chromosome 3: base pairs 12,329,348 to 12,475,854 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 12,329,348 to base pair 12,475,854 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 GTR: Genetic tests for PPARG You may also be interested in these resources, which are designed for genetics professionals and researchers. OMIM - Genetic disorder catalog DIABETES MELLITUS, NONINSULIN-DEPENDENT PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA OBESITY LEANNESS, INCLUDED LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3 CAROTID INTIMAL MEDIAL THICKNESS 1 Research Resources - Tools for researchers Atlas of Genetics and Cytogenetics in Oncology and Haematology Entrez Gene GeneCards HUGO Gene Nomenclature Committee UniProt What other names do people use for the PPARG gene or gene products? CIMT1 GLM1 NR1C3 PPARG1 PPARG2 PPARgamma See How are genetic conditions and genes named? in the Handbook. Where can I find general information about genes? The Handbook provides basic information about genetics in clear language. What is DNA? What is a gene? How do genes direct the production of proteins? How can gene mutations affect health and development? These links provide additional genetics resources that may be useful. Genetics education Human Genome Project Resources for Genetic Researchers What glossary definitions help with understanding PPARG? acids ; atherosclerosis ; cancer ; CoA ; colon ; diabetes ; diabetes mellitus ; differentiation ; familial ;fatty acids ; gene ; glioblastoma ; glucose ; homeostasis ; insulin ; isoforms ; ligand ; lipodystrophy ;mutation ; oxidase ; oxidation ; polymorphism ; promoter ; protein ; receptor ; retinoid ; sporadic ;susceptibility ; transcript ; transcription You may find definitions for these and many other terms in the Genetics Home Reference Glossary. See also Understanding Medical Terminology. 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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.