KEGG   NETWORK: N00789
Entry
N00789                      Network                                
Name
Mutation-inactivated TPO to iodide organification/coupling reactions
Definition
TG+(Iodide+Tyr) -- TPO* // TG+(MIT,DIT) -- TPO* // TG+(T3,T4)
  Expanded
7038+(C00708+C00082) -- 7173v1 // 7038+(C02515,C01060) -- 7173v1 // 7038+(C02465,C01829)
Class
nt06322 TRH-TSH-TH signaling
Type
Variant
Disease
H00251  Thyroid dyshormonogenesis
Gene
7038  TG; thyroglobulin
7173  TPO; thyroid peroxidase
Variant
7173v1 (TPO*)  TPO mutation
Metabolite
C00708  Iodide
C00082  L-Tyrosine
C02515  3-Iodo-L-tyrosine
C01060  3,5-Diiodo-L-tyrosine
C02465  Triiodothyronine
C01829  Thyroxine
Reference
PMID:30324792
  Authors
Peters C, van Trotsenburg ASP, Schoenmakers N
  Title
DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives
  Journal
Eur J Endocrinol 179:R297-R317 (2018)
DOI:10.1530/EJE-18-0383
Reference
PMID:15611820
  Authors
Vono-Toniolo J, Kopp P
  Title
Thyroglobulin gene mutations and other genetic defects associated with congenital hypothyroidism.
  Journal
Arq Bras Endocrinol Metabol 48:70-82 (2004)
DOI:10.1590/S0004-27302004000100009
Reference
PMID:21543982
  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
LinkDB

DBGET integrated database retrieval system