Journal
TRENDS IN ENDOCRINOLOGY AND METABOLISM
Volume 16, Issue 10, Pages 451-457Publisher
ELSEVIER SCIENCE LONDON
DOI: 10.1016/j.tem.2005.10.006
Keywords
-
Categories
Funding
- Wellcome Trust Funding Source: Medline
Ask authors/readers for more resources
Adrenocorticotrophin (ACTH) insensitivity is a potentially lethal inherited disorder of ACTH signalling in the adrenal. Inactivating mutations of the ACTH receptor account for similar to 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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available