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Article

A homozygous null mutation delineates the role of the melanocortin-4 receptor in humans.

The Journal of clinical endocrinology and metabolism - 1 May 2004

Lubrano-Berthelier Cécile, Le Stunff Catherine, Bougnères Pierre, Vaisse Christian

Abstract excerpt

As a mediator of the effects of leptin, the melanocortin-4 receptor (MC4R) is an essential component of the central regulation of long-term energy homeostasis. Heterozygous mutations in this receptor are the most frequent genetic cause of severe obesity in children. The very rare described carriers of homozygous MC4R mutations for whom clinical data were available had a residual receptor activity thus not...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15126516
DOI: 10.1210/jc.2003-031993

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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