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

Item Type:Article
Title:Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2
Creators Name:Metherell, L.A. and Chapple, J.P. and Cooray, S. and David, A. and Becker, C. and Rueschendorf, F. and Naville, D. and Begeot, M. and Khoo, B. and Nuernberg, P. and Huebner, A. and Cheetham, M.E. and Clark, A.J.L.
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 1-3. Mutations of the ACTH receptor (melanocortin 2 receptor, MC2R) account for ∼25% of cases of FGD 4-7. 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 8, 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.
Keywords:Adrenocorticotropic Hormone, CHO Cells, Chromosome Mapping, Cricetinae, Cricetulus, Membrane Proteins, Molecular Sequence Data, Mutation, Pair 21 Human Chromosomes, Pedigree, Reverse Transcriptase Polymerase Chain Reaction, Type 2 Melanocortin Receptor, Animals
Source:Nature Genetics
ISSN:1061-4036
Publisher:Nature Publishing Group (U.S.A.)
Volume:37
Number:2
Page Range:166-170
Date:1 January 2005
Official Publication:https://doi.org/10.1038/ng1501
PubMed:View item in PubMed

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