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Article

Loss of the C terminus of melanocortin receptor 2 (MC2R) results in impaired cell surface expression and ACTH insensitivity.

The Journal of clinical endocrinology and metabolism - 1 Jan 2011

Hirsch Andrea, Meimaridou Eirini, Fernandez-Cancio Monica, Pandey Amit V, Clemente María, Audi Laura, Clark Adrian J L, Flück Christa E

Abstract excerpt

OBJECTIVE: Mutations in melanocortin receptor 2 (MC2R) and its related melanocortin receptor accessory protein (MRAP) cause familial glucocorticoid deficiency. We identified a novel MC2R mutation, K289fs. This unique mutation in the C terminus of MC2R is located in the intracellular part of the protein for which the exact function is unknown. SETTING: A 6-wk-old boy presented with severe hypoglycemia,...

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Source

Identifiers

PMID: 20962024
DOI: 10.1210/jc.2010-1056

Genes

MRAP

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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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