KEGG   NETWORK: N00299
Entry
N00299                      Network                                

Name
Mutation-inactivated MC2R to ACTH-cortisol signaling pathway
Definition
ACTH // (MC2R*+MRAP) // GNAS
  Expanded
5443 // (4158v1+56246) // 2778
Class
nt06310 CRH-ACTH-cortisol signaling
Type
Variant
Disease
H00256  Familial glucocorticoid deficiency
Gene
5443  POMC; proopiomelanocortin
4158  MC2R; melanocortin 2 receptor
56246  MRAP; melanocortin 2 receptor accessory protein
2778  GNAS; GNAS complex locus
Variant
4158v1 (MC2R*)  MC2R mutation
Reference
  Authors
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJ
  Title
The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking  of the receptor to the cell surface.
  Journal
J Clin Endocrinol Metab 93:4948-54 (2008)
DOI:10.1210/jc.2008-1744
Reference
  Authors
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA
  Title
Familial glucocorticoid deficiency: New genes and mechanisms.
  Journal
Mol Cell Endocrinol 371:195-200 (2013)
DOI:10.1016/j.mce.2012.12.010
Reference
  Authors
Metherell LA, Chan LF, Clark AJ
  Title
The genetics of ACTH resistance syndromes.
  Journal
Best Pract Res Clin Endocrinol Metab 20:547-60 (2006)
DOI:10.1016/j.beem.2006.09.002
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