KEGG   NETWORK: N00801
Entry
N00801                      Network                                
Name
Mutation-inactivated SLC16A2 to thyroid hormone signaling pathway
Definition
SLC16A2* // T3 -> (THRB,THRA)
  Expanded
6567v1 // C02465 -> (7068,7067)
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Disease
H00650  Allan-Herndon-Dudley syndrome
Gene
6567  SLC16A2; solute carrier family 16 member 2
7068  THRB; thyroid hormone receptor beta
7067  THRA; thyroid hormone receptor alpha
Variant
6567v1 (SLC16A2*)  SLC16A2 mutation
Metabolite
C02465  Triiodothyronine
Reference
  Authors
Dumitrescu AM, Refetoff S
  Title
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action
  Journal
Endotext (2000)
Reference
  Authors
Novara F, Groeneweg S, Freri E, Estienne M, Reho P, Matricardi S, Castellotti B, Visser WE, Zuffardi O, Visser TJ
  Title
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
  Journal
Hum Mutat 38:260-264 (2017)
DOI:10.1002/humu.23140
Reference
  Authors
Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K
  Title
SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.
  Journal
Hum Genome Var 1:14010 (2014)
DOI:10.1038/hgv.2014.10
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