Entry |
|
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 |
|
Type |
Variant
|
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*) GNAS inactivating mutation
|
Reference |
|
Authors |
Mantovani G, Spada A, Elli FM |
Title |
Pseudohypoparathyroidism and Gsalpha-cAMP-linked disorders: current view and open issues. |
Journal |
|
Reference |
|
Authors |
Levine MA, Germain-Lee E, Jan de Beur S |
Title |
Genetic basis for resistance to parathyroid hormone. |
Journal |
|
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 |
|
LinkDB |
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