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      Inherited ACTH insensitivity illuminates the mechanisms of ACTH action.

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          Abstract

          Adrenocorticotrophin (ACTH) insensitivity is a potentially lethal inherited disorder of ACTH signalling in the adrenal. Inactivating mutations of the ACTH receptor account for approximately 25% of these cases. A second genetic cause for this syndrome has recently been identified in the MRAP gene. The MRAP protein appears to function in the trafficking and cell surface expression of the ACTH receptor, and might indicate the existence of more widespread G-protein-coupled receptor trafficking mechanisms. Molecular defects underlying other causes of ACTH insensitivity syndromes will probably contribute further to our understanding of these pathways.

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          Author and article information

          Journal
          Trends Endocrinol Metab
          Trends in endocrinology and metabolism: TEM
          Elsevier BV
          1043-2760
          1043-2760
          Dec 2005
          : 16
          : 10
          Affiliations
          [1 ] Department of Endocrinology, Barts and the London, Queen Mary, University of London, West Smithfield, London EC1M 6BQ, UK. a.j.clark@qmul.ac.uk
          Article
          S1043-2760(05)00237-7
          10.1016/j.tem.2005.10.006
          16271481
          501b54f9-4471-47da-b141-f37be643bc20
          History

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