Article
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Hormone research - 1 Jan 2008
Chan L F, Clark A J L, Metherell L A
Abstract excerpt
Familial glucocorticoid deficiency (FGD), otherwise known as hereditary unresponsiveness to ACTH, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. Mutations of the ACTH receptor, also known as the melanocortin-2 receptor (MC2R), account for approximately 25% of FGD cases. More recently a second gene, MRAP (melanocortin-2 receptor...
Topics
- Adrenal Gland Diseases
- Adrenocorticotropic Hormone
- Amino Acid Sequence
- Amino Acid Substitution
- Glucocorticoids
- Humans
- Models, Biological
- Mutation
- Receptor, Melanocortin, Type 2
- Signal Transduction