Kokain- und Amphetamin-reguliertes Protein
Das CARTPT-Gen codiert ein Protein, welches in der Regulation von Appetit und Energieaufnahme bzw. -bilanzierung beteiligt ist. 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. |
Elefteriou F et al. (2005) Leptin regulation of bone resorption by the sympathetic nervous system and CART.
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2. |
Douglass J et al. (1996) Characterization of the human cDNA and genomic DNA encoding CART: a cocaine- and amphetamine-regulated transcript.
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3. |
Kristensen P et al. (1998) Hypothalamic CART is a new anorectic peptide regulated by leptin.
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4. |
Elias CF et al. (1998) Leptin activates hypothalamic CART neurons projecting to the spinal cord.
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5. |
Challis BG et al. (2000) The CART gene and human obesity: mutational analysis and population genetics.
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6. |
del Giudice EM et al. (2001) Mutational screening of the CART gene in obese children: identifying a mutation (Leu34Phe) associated with reduced resting energy expenditure and cosegregating with obesity phenotype in a large family.
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7. |
Kuhar MJ et al. (2002) CART peptides.
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8. |
Dominguez G et al. (2004) CART peptide levels are altered by a mutation associated with obesity at codon 34.
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9. |
Jean A et al. (2007) Anorexia induced by activation of serotonin 5-HT4 receptors is mediated by increases in CART in the nucleus accumbens.
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10. |
NCBI article
NCBI 9607
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11. |
OMIM.ORG article
Omim 602606
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Update: 14. August 2020