The DOI matches its Crossref record; 27 of the 28 references it cites were found in a registry or an index.
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
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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“The ACTH receptor, also known as the melanocortin 2 receptor (MC2R), is unusual in that it is absolutely dependent on a small accessory protein, melanocortin receptor accessory protein (MRAP) for cell surface expression and function.”
From ACTH Antagonists (2016) · cites this paper as [34]
In the citing paper
“FGD2, which is clinically indistinguishable from FGD1, is caused by mutations in the gene for melanocortin 2 receptor accessory protein (MRAP) (119, 625, 626).”
From The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders (2011) · cites this paper as [625]
Citations
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RTP Family Members Induce Functional Expression of Mammalian Odorant Receptors
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Adrenocorticotropin insensitivity syndromes
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Cited by
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The Molecular Biology, Biochemistry, and Physiology of Human Steroidogenesis and Its Disorders
Miller, W. L., & Auchus, R. J. (2011) · Endocrine Reviews · doi:10.1210/er.2010-0013 · Cited by 2,458
SNP Genotyping: Technologies and Biomedical Applications
Kim, S., & Misra, A. (2007) · Annual Review of Biomedical Engineering · doi:10.1146/annurev.bioeng.9.060906.152037 · Cited by 639
Surjit, M., Ganti, K. P., Mukherji, A., Ye, T., Hua, G., Metzger, D., Li, M., & Chambon, P. (2011) · Cell · doi:10.1016/j.cell.2011.03.027 · Cited by 551
Fine-tuning of GPCR activity by receptor-interacting proteins
Ritter, S. L., & Hall, R. A. (2009) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2803 · Cited by 479
Role of glucocorticoid negative feedback in the regulation of HPA axis pulsatility
Gjerstad, J. K., Lightman, S. L., & Spiga, F. (2018) · Stress · doi:10.1080/10253890.2018.1470238 · Cited by 437
Metadata
- 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
- Venue
- Nature Genetics
- Published
- 2005-01-16
- Volume
- 37
- Issue
- 2
- Pages
- 166-170
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- 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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