Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Cocaine- and amphetamine-regulated transcript protein

The CARTPT encodes proteins that are involved in the regulation of appetite and energy consumption and balance. Mutations can cause obesity wich follows a dominant model. Also synergistic effects with mutations in other genes have to be taken into account.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Susceptibility to obesity
ADRB2
ADRB3
CARTPT
ENPP1
GHRL
PPARGC1B
SDC3
UCP1

References:

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 external link
11.

OMIM.ORG article

Omim 602606 external link
12.

Wikipedia article

Wikipedia EN (Cocaine_and_amphetamine_regulated_transcript) external link
Update: Aug. 14, 2020
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