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Functional studies on twenty novel naturally occurring melanocortin-4 receptor mutations.

Biochimica et biophysica acta - 1 Sept 2011

Wang Zhi-Qiang, Tao Ya-Xiong

Abstract excerpt

The melanocortin-4 receptor (MC4R) is a G protein-coupled receptor critically involved in regulating energy balance. MC4R activation results in decreased food intake and increased energy expenditure. Genetic and pharmacological studies demonstrated that the MC4R regulation of energy balance is conserved from fish to mammals. In humans, more than 150 naturally occurring mutations in the MC4R gene have been...

Topics

Amino Acid Sequence
Cyclic AMP
HEK293 Cells
Humans
Molecular Sequence Data
Mutation
Receptor, Melanocortin, Type 4
Signal Transduction
Transfection
alpha-MSH
beta-MSH

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Identifiers

PMID: 21729752
DOI: 10.1016/j.bbadis.2011.06.008
PMCID: PMC3155388

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