KEGG   NETWORK: N00923
Entry
N00923                      Network                                

Name
Mutation-inactivated FSHB to FSHR-GNAS-PKA signaling pathway
Definition
(CGA+FSHB*) // FSHR -> GNAS -> ADCY -> cAMP -> PKA
  Expanded
(1081+2488v1) // 2492 -> 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
H01253  Isolated follicle-stimulating hormone deficiency
Gene
1081  CGA; glycoprotein hormones, alpha polypeptide
2488  FSHB; follicle stimulating hormone subunit beta
2492  FSHR; follicle stimulating hormone 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
2488v1 (FSHB*)  FSHB mutation
Metabolite
C00575  3',5'-Cyclic AMP
Reference
  Authors
Layman LC
  Title
Mutations in the follicle-stimulating hormone-beta (FSH beta) and FSH receptor genes in mice and humans.
  Journal
Semin Reprod Med 18:5-10 (2000)
DOI:10.1055/s-2000-13470
Reference
  Authors
Layman LC, McDonough PG
  Title
Mutations of follicle stimulating hormone-beta and its receptor in human and mouse: genotype/phenotype.
  Journal
Mol Cell Endocrinol 161:9-17 (2000)
DOI:10.1016/S0303-7207(99)00217-8
Reference
  Authors
Zheng J, Mao J, Cui M, Liu Z, Wang X, Xiong S, Nie M, Wu X
  Title
Novel FSHbeta mutation in a male patient with isolated FSH deficiency and infertility.
  Journal
Eur J Med Genet 60:335-339 (2017)
DOI:10.1016/j.ejmg.2017.04.004
LinkDB

DBGET integrated database retrieval system