alpha-Ketoglutarate-abhängige Dioxygenase FTO
Die physiologische Funktion des vom FTO-Gen kodierten Enzyms ist noch nicht genau bekannt. Genetische Veränderungen in diesem Gen verursachen Wachstumsstörungen und sind mit Fettsucht und Typ 2 Diabetes assoziiert.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Zeggini E et al. (2007) Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes.
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2. |
Church C et al. (2010) Overexpression of Fto leads to increased food intake and results in obesity.
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3. |
Han Z et al. (2010) Crystal structure of the FTO protein reveals basis for its substrate specificity.
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4. |
Fischer J et al. (2009) Inactivation of the Fto gene protects from obesity.
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5. |
Gerken T et al. (2007) The obesity-associated FTO gene encodes a 2-oxoglutarate-dependent nucleic acid demethylase.
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6. |
Peters T et al. (1999) Cloning of Fatso (Fto), a novel gene deleted by the Fused toes (Ft) mouse mutation.
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7. |
van der Hoeven F et al. (1994) Programmed cell death is affected in the novel mouse mutant Fused toes (Ft).
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8. |
Claussnitzer M et al. (2015) FTO Obesity Variant Circuitry and Adipocyte Browning in Humans.
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9. |
Dina C et al. (2007) Variation in FTO contributes to childhood obesity and severe adult obesity.
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10. |
Frayling TM et al. (2007) A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity.
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11. |
Daoud H et al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.
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12. |
Boissel S et al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
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13. |
Meyre D et al. (2009) Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations.
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14. |
Scott LJ et al. (2007) A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
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15. |
Orphanet article
Orphanet ID 212927
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16. |
NCBI article
NCBI 79068
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17. |
OMIM.ORG article
Omim 610966
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Update: 14. August 2020