KEGG   NETWORK: N00300
Entry
N00300                      Network                                

Name
Mutation-inactivated MRAP to ACTH-cortisol signaling pathway
Definition
ACTH // (MC2R+MRAP*) // GNAS
  Expanded
5443 // (4158+56246v1) // 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
56246v1 (MRAP*)  MRAP mutation
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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