KEGG   NETWORK: N00800
Entry
N00800                      Network                                
Name
Mutation-inactivated THRB to thyroid hormone signaling pathway
Definition
(SLC16A10,SLC16A2) -> T3 // THRB* -- RXR => (MYH6,ATP2A2)
  Expanded
(117247,6567) -> C02465 // 7068v1 -- (6256,6257,6258) => (4624,488)
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Disease
H00249  Thyroid hormone resistance syndrome
Gene
117247  SLC16A10; solute carrier family 16 member 10
6567  SLC16A2; solute carrier family 16 member 2
7068  THRB; thyroid hormone receptor beta
6256  RXRA; retinoid X receptor alpha
6257  RXRB; retinoid X receptor beta
6258  RXRG; retinoid X receptor gamma
4624  MYH6; myosin heavy chain 6
488  ATP2A2; ATPase sarcoplasmic/endoplasmic reticulum Ca2+ transporting 2
Variant
7068v1 (THRB*)  THRB mutation
Metabolite
C02465  Triiodothyronine
Reference
PMID:7711514
  Authors
Jameson JL
  Title
Mechanisms by which thyroid hormone receptor mutations cause clinical syndromes of resistance to thyroid hormone.
  Journal
Thyroid 4:485-92 (1994)
DOI:10.1089/thy.1994.4.485
Reference
  Authors
Dumitrescu AM, Refetoff S
  Title
Impaired Sensitivity to Thyroid Hormone: Defects of Transport, Metabolism and Action
  Journal
Endotext (2000)
Reference
  Authors
Singh BK, Yen PM
  Title
A clinician's guide to understanding resistance to thyroid hormone due to receptor mutations in the TRalpha and TRbeta isoforms.
  Journal
Clin Diabetes Endocrinol 3:8 (2017)
DOI:10.1186/s40842-017-0046-z
Reference
PMID:9927321
  Authors
Gloss B, Sayen MR, Trost SU, Bluhm WF, Meyer M, Swanson EA, Usala SJ, Dillmann WH
  Title
Altered cardiac phenotype in transgenic mice carrying the delta337 threonine thyroid hormone receptor beta mutant derived from the S family.
  Journal
Endocrinology 140:897-902 (1999)
DOI:10.1210/endo.140.2.6527
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