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Article

Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.

The Journal of clinical endocrinology and metabolism - 1 Aug 1999

Elias L L, Huebner A, Pullinger G D, Mirtella A, Clark A J

Abstract excerpt

Several missense mutations of the ACTH receptor (MC2-R) gene have been associated with the autosomal recessive syndrome of familial glucocorticoid deficiency. Attempts to demonstrate the functional role of these mutations have been confounded by difficulties in expression of the cloned receptor in cells lacking endogenous melanocortin receptors. The Y6 cell line, a mutant derived from the Y1 cell line, lacks any...

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

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Source

Identifiers

PMID: 10443676
DOI: 10.1210/jcem.84.8.5924

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Functional characterization of naturally occurring mutations of the human adrenocorticotropin receptor: poor correlation of phenotype and genotype.PMID 10443676Read ↗

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