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Article

Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways.

Human molecular genetics - 7 Mar 2025

Wyatt Rachael A, Jamaluddin Aqfan, Mistry Vinesh, Quinn Caitlin, Gorvin Caroline M

Abstract excerpt

The melanocortin-4 receptor (MC4R) is a G protein-coupled receptor expressed at hypothalamic neurons that has an important role in appetite suppression and food intake. Mutations in MC4R are the most common cause of monogenic obesity and can affect multiple signaling pathways including Gs-cAMP, Gq, ERK1/2, β-arrestin recruitment, internalization and cell surface expression. The melanocortin-2 receptor accessory...

Read the complete abstract on PubMed

Topics

Humans
Receptor, Melanocortin, Type 4
Obesity
Signal Transduction
Cyclic AMP
HEK293 Cells
Mutation

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Membrane Proteins

Adaptor Proteins, Signal Transducing

Source

Open in PubMed Open full text

Identifiers

PMID: 39807633
DOI: 10.1093/hmg/ddaf005
PMCID: PMC11891872

Genes

MRAP2
MC4R

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 17 Oct 2026.

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Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathways.PMID 39807633Read ↗

Obesity-associated MRAP2 variants impair multiple MC4R-mediated signaling pathwaysSemantic proximity Read ↗

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MRAP2 potentiates GPCR signaling by conserved mechanisms that are disrupted by obesity-associated genetic variantsSemantic proximity Read ↗

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Decreased melanocortin-4 receptor function conferred by an infrequent variant at the human melanocortin receptor accessory protein 2 gene.Semantic proximity Read ↗

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