KEGG   NETWORK: N00289Help
Entry
N00289                      Network                                

Name
Mutation-inactivated GNAS to PTH-PTH1R-PKA signaling pathway
Definition
PTH -> PTH1R -> GNAS* // ADCY
  Expanded
5741 -> 5745 -> 2778v2 // (107,108,109,196883,111,112,113,114,115)
Class
nt06318 CaSR-PTH signaling
Type
Variant
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
Disease
H00244  Pseudohypoparathyroidism
Gene
5741  PTH; parathyroid hormone
5745  PTH1R; parathyroid hormone 1 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
Variant
2778v2  GNAS inactivating mutation
Reference
  Authors
Mantovani G, Spada A, Elli FM
  Title
Pseudohypoparathyroidism and Gsalpha-cAMP-linked disorders: current view and open issues.
  Journal
Nat Rev Endocrinol 12:347-56 (2016)
DOI:10.1038/nrendo.2016.52
Reference
  Authors
Levine MA, Germain-Lee E, Jan de Beur S
  Title
Genetic basis for resistance to parathyroid hormone.
  Journal
Horm Res 60 Suppl 3:87-95 (2003)
DOI:10.1159/000074508
Reference
  Authors
Mannstadt M, Bilezikian JP, Thakker RV, Hannan FM, Clarke BL, Rejnmark L, Mitchell DM, Vokes TJ, Winer KK, Shoback DM
  Title
Hypoparathyroidism.
  Journal
Nat Rev Dis Primers 3:17055 (2017)
DOI:10.1038/nrdp.2017.55
LinkDB All DBs

DBGET integrated database retrieval system