KEGG   NETWORK: N00886
Entry
N00886                      Network                                

Name
Mutation-activated LHCGR to LHCGR-GNAS-PKA signaling pathway
Definition
(LHB+CGA) -> LHCGR* -> GNAS -> ADCY -> cAMP -> PKA
  Expanded
(3972+1081) -> 3973v1 -> 2778 -> (107,108,109,196883,111,112,113,114,115) -> C00575 -> (5566+5567+5568)
Class
nt06323 KISS1-GnRH-LH/FSH-E2 signaling
Type
Variant
Disease
H02019  Familial male-limited precocious puberty
H00937  Precocious puberty
Gene
3972  LHB; luteinizing hormone beta polypeptide
1081  CGA; glycoprotein hormones, alpha polypeptide
3973  LHCGR; luteinizing hormone/choriogonadotropin receptor
2778  GNAS; GNAS complex locus
107  ADCY1; adenylate cyclase 1
108  ADCY2; adenylate cyclase 2
109  ADCY3; adenylate cyclase 3
196883  ADCY4; adenylate cyclase 4
111  ADCY5; adenylate cyclase 5
112  ADCY6; adenylate cyclase 6
113  ADCY7; adenylate cyclase 7
114  ADCY8; adenylate cyclase 8
115  ADCY9; adenylate cyclase 9
5566  PRKACA; protein kinase cAMP-activated catalytic subunit alpha
5567  PRKACB; protein kinase cAMP-activated catalytic subunit beta
5568  PRKACG; protein kinase cAMP-activated catalytic subunit gamma
Variant
3973v1 (LHCGR*)  LHCGR mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Qiao J, Han B
  Title
Diseases caused by mutations in luteinizing hormone/chorionic gonadotropin receptor.
  Journal
Prog Mol Biol Transl Sci 161:69-89 (2019)
DOI:10.1016/bs.pmbts.2018.09.007
Reference
  Authors
Narayan P
  Title
Genetic Models for the Study of Luteinizing Hormone Receptor Function.
  Journal
Front Endocrinol (Lausanne) 6:152 (2015)
DOI:10.3389/fendo.2015.00152
Reference
  Authors
Ulloa-Aguirre A, Reiter E, Bousfield G, Dias JA, Huhtaniemi I
  Title
Constitutive activity in gonadotropin receptors.
  Journal
Adv Pharmacol 70:37-80 (2014)
DOI:10.1016/B978-0-12-417197-8.00002-X
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