KEGG   NETWORK: N00294Help
Entry
N00294                      Network                                

Name
Mutation-activated GCM2 to transcription
Definition
GCM2* => PTH
  Expanded
9247v2 => 5741
Class
nt06318 CaSR-PTH signaling
Type
Variant
Pathway
hsa04928  Parathyroid hormone synthesis, secretion and action
Disease
H00246  Primary hyperparathyroidism
Gene
9247  GCM2; glial cells missing homolog 2
5741  PTH; parathyroid hormone
Variant
9247v2  GCM2 activating mutation
Reference
  Authors
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK
  Title
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
  Journal
Am J Hum Genet 99:1034-1044 (2016)
DOI:10.1016/j.ajhg.2016.08.018
Reference
  Authors
El Lakis M, Nockel P, Guan B, Agarwal S, Welch J, Simonds WF, Marx S, Li Y, Nilubol N, Patel D, Yang L, Merkel R, Kebebew E
  Title
Familial isolated primary hyperparathyroidism associated with germline GCM2 mutations is more aggressive and has a lesser rate of biochemical cure.
  Journal
Surgery 163:31-34 (2018)
DOI:10.1016/j.surg.2017.04.027
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