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Article

Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.

Nature genetics - 1 Jun 1998

Krude H, Biebermann H, Luck W, Horn R, Brabant G, Grüters A

Abstract excerpt

Sequential cleavage of the precursor protein pre-pro-opiomelanocortin (POMC) generates the melanocortin peptides adrenocorticotrophin (ACTH), melanocyte-stimulating hormones (MSH) alpha, beta and gamma as well as the opioid-receptor ligand beta-endorphin. While a few cases of isolated ACTH deficiency have been reported (OMIM 201400), an inherited POMC defect has not been described so far. Recent studies in animal...

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Identifiers

PMID: 9620771
DOI: 10.1038/509

Genes

POMC

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.PMID 9620771Read ↗

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Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutationSemantic proximity Read ↗

A missense mutation disrupting a dibasic prohormone processing site in pro-opiomelanocortin (POMC) increases susceptibility to early-onset obesity through a novel molecular mechanismSemantic proximity Read ↗

Implications of proopiomelanocortin (POMC) mutations in humans: the POMC deficiency syndrome.Semantic proximity Read ↗

A novel mutation in the proopiomelanocortin (POMC) gene of a Hispanic child: metformin treatment shows a beneficial impact on the body mass index.Semantic proximity Read ↗

Proopiomelanocortin (POMC): the cutaneous roles of its melanocortin products and receptors.Semantic proximity Read ↗

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Mutations in the human proopiomelanocortin gene.Semantic proximity Read ↗

Mutational analysis of the pro-opiomelanocortin gene in French obese children led to the identification of a novel deleterious heterozygous mutation located in the alpha-melanocyte stimulating hormone domain.Semantic proximity Read ↗

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