KEGG   NETWORK: N00796
Entry
N00796                      Network                                

Name
Mutation-inactivated DUOXA2 to DUOX2-generated H2O2 production
Definition
DUOXA2* // DUOX2 -> H2O2
  Expanded
405753v1 // 50506 -> C00027
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Disease
H00251  Thyroid dyshormonogenesis
Gene
405753  DUOXA2; dual oxidase maturation factor 2
50506  DUOX2; dual oxidase 2
Variant
405753v1 (DUOXA2*)  DUOXA2 mutation
Metabolite
C00027  Hydrogen peroxide
Reference
  Authors
Zamproni I, Grasberger H, Cortinovis F, Vigone MC, Chiumello G, Mora S, Onigata K, Fugazzola L, Refetoff S, Persani L, Weber G
  Title
Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism.
  Journal
J Clin Endocrinol Metab 93:605-10 (2008)
DOI:10.1210/jc.2007-2020
Reference
  Authors
Grasberger H, Refetoff S
  Title
Genetic causes of congenital hypothyroidism due to dyshormonogenesis.
  Journal
Curr Opin Pediatr 23:421-8 (2011)
DOI:10.1097/MOP.0b013e32834726a4
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