Mitochondriales Entkopplungsprotein 1
Das UCP1-Gen kodiert eine mitochondriales Transportprotein, welches für die Energiezufuhr und Wärmeproduktion der Zelle steuert. Mutationen sind mit Adipositas in Zusammenhang gebracht. Die Vererbung folgt einem dominanten Model. Es kann zudem zu synergistischen Reaktionen mit Mutationen in anderen Genen kommen.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Fletcher C et al. (1991) A multilocus linkage map of mouse chromosome 8.
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2. |
Chouchani ET et al. (2016) Mitochondrial ROS regulate thermogenic energy expenditure and sulfenylation of UCP1.
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3. |
Kong X et al. (2014) IRF4 is a key thermogenic transcriptional partner of PGC-1α.
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4. |
Gerhart-Hines Z et al. (2013) The nuclear receptor Rev-erbα controls circadian thermogenic plasticity.
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5. |
Tateishi K et al. (2009) Role of Jhdm2a in regulating metabolic gene expression and obesity resistance.
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6. |
Berg F et al. (2006) The uncoupling protein 1 gene (UCP1) is disrupted in the pig lineage: a genetic explanation for poor thermoregulation in piglets.
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7. |
Bernal-Mizrachi C et al. (2005) Vascular respiratory uncoupling increases blood pressure and atherosclerosis.
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8. |
Nagai N et al. (2003) The -3826 A-->G variant of the uncoupling protein-1 gene diminishes postprandial thermogenesis after a high fat meal in healthy boys.
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9. |
Echtay KS et al. (2002) Superoxide activates mitochondrial uncoupling proteins.
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10. |
Echtay KS et al. (2000) Coenzyme Q is an obligatory cofactor for uncoupling protein function.
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11. |
Urhammer SA et al. (1997) Studies of genetic variability of the uncoupling protein 1 gene in Caucasian subjects with juvenile-onset obesity.
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12. |
Thomas SA et al. (1997) Thermoregulatory and metabolic phenotypes of mice lacking noradrenaline and adrenaline.
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13. |
Enerbäck S et al. (1997) Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese.
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14. |
Clément K et al. (1996) Additive effect of A-->G (-3826) variant of the uncoupling protein gene and the Trp64Arg mutation of the beta 3-adrenergic receptor gene on weight gain in morbid obesity.
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15. |
Lowell BB et al. () Development of obesity in transgenic mice after genetic ablation of brown adipose tissue.
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16. |
Oppert JM et al. (1994) DNA polymorphism in the uncoupling protein (UCP) gene and human body fat.
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17. |
Bouillaud F et al. (1986) Complete cDNA-derived amino acid sequence of rat brown fat uncoupling protein.
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18. |
Bouillaud F et al. (1988) Detection of brown adipose tissue uncoupling protein mRNA in adult patients by a human genomic probe.
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19. |
Ridley RG et al. (1986) Complete nucleotide and derived amino acid sequence of cDNA encoding the mitochondrial uncoupling protein of rat brown adipose tissue: lack of a mitochondrial targeting presequence.
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20. |
Jacobsson A et al. (1985) Mitochondrial uncoupling protein from mouse brown fat. Molecular cloning, genetic mapping, and mRNA expression.
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21. |
Cassard AM et al. (1990) Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4.
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22. |
Urhammer SA et al. (2000) Studies of the synergistic effect of the Trp/Arg64 polymorphism of the beta3-adrenergic receptor gene and the -3826 A-->G variant of the uncoupling protein-1 gene on features of obesity and insulin resistance in a population-based sample of 379 young Danish subjects.
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23. |
NCBI article
NCBI 7350
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24. |
OMIM.ORG article
Omim 113730
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25. |
Wikipedia Artikel
Wikipedia DE (Thermogenin)
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Update: 14. August 2020