Cited by 437Adrenal Hormones and DisordersStress Responses and CortisolMetabolism and Genetic Disorders

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Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

Metherell, Louise A, Chapple, J Paul, Cooray, Sadani, David, Alessia, Becker, Christian, Rüschendorf, Franz, Naville, Danielle, Begeot, Martine, Khoo, Bernard, Nürnberg, Peter, Huebner, Angela, Cheetham, Michael E, Clark, Adrian J L·2005·Nature Genetics

DOI 10.1038/ng1501

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Abstract

Familial glucocorticoid deficiency (FGD), or hereditary unresponsiveness to adrenocorticotropin (ACTH; OMIM 202200), is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex, which stimulates glucocorticoid production. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia or overwhelming infection in infancy or childhood. Mutations of the ACTH receptor (melanocortin 2 receptor, MC2R) account for approximately 25% of cases of FGD. FGD without mutations of MC2R is called FGD type 2. Using SNP array genotyping, we mapped a locus involved in FGD type 2 to chromosome 21q22.1. We identified mutations in a gene encoding a 19-kDa single-transmembrane domain protein, now known as melanocortin 2 receptor accessory protein (MRAP). We show that MRAP interacts with MC2R and may have a role in the trafficking of MC2R from the endoplasmic reticulum to the cell surface.

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Authors: Metherell, L. A., Chapple, J. P., Cooray, S., David, A., Becker, C., Rüschendorf, F., Naville, D., Begeot, M., Khoo, B., Nürnberg, P., Huebner, A., Cheetham, M. E., & Clark, A. J. L.
Affiliations: Queen Mary University of London (GB)
University College London (GB)
Max Delbrück Center (DE)
Inserm (FR)
Technische Universität Dresden (DE)
Corresponding author: Clark, Adrian J L
ORCID: Metherell, Louise A
Chapple, J Paul
David, Alessia
Becker, Christian
Rüschendorf, Franz
Naville, Danielle
Khoo, Bernard
Nürnberg, Peter
Huebner, Angela
Cheetham, Michael E
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2005-01-16
Volume: 37
Issue: 2
Pages: 166-170
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng1501
OpenAlex: W2098925719
Semantic Scholar: b2d12120a324b7d71199b9cf119c7a50f2a35776
Cited by: 437
References: 28
Citations by year: 2026: 5 · 2025: 9 · 2024: 12 · 2023: 22 · 2022: 26 · 2021: 36 · 2020: 12 · 2019: 18 · 2018: 19 · 2017: 26 · 2016: 22 · 2015: 22 · 2014: 33 · 2013: 25 · 2012: 22
FWCI: 10.76
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature Genetics (publishedVersion)
PubMed (publishedVersion)
UCL Discovery (University College London) (submittedVersion)
Topics: Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
Life Sciences › Neuroscience › Behavioral Neuroscience › Stress Responses and Cortisol
Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords: MRAP, melanocortin 2 receptor, ACTH receptor, receptor trafficking, endoplasmic reticulum, autosomal recessive disorder, adrenal cortex, cortisol deficiency, protein-protein interaction
MeSH terms: Adrenocorticotropic Hormone, Animals, Chromosome Mapping, Chromosomes, Human, Pair 21, Cricetulus, Female, Cricetinae, Humans, Male, Membrane Proteins, Molecular Sequence Data, Mutation, Pedigree, CHO Cells, Reverse Transcriptase Polymerase Chain Reaction, Receptor, Melanocortin, Type 2

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Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2

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