KEGG   VARIANT: 6528v1
Entry
6528v1                      Variant                                
Name
SLC5A5 mutation
Type
Loss of function
Gene
SLC5A5  solute carrier family 5 member 5 [KO:K14385]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601843
Network
nt06322  TRH-TSH-TH signaling
Disease
H00251  Thyroid dyshormonogenesis
Reference
PMID:9398697
  Authors
Matsuda A, Kosugi S
  Title
A homozygous missense mutation of the sodium/iodide symporter gene causing iodide transport defect.
  Journal
J Clin Endocrinol Metab 82:3966-71 (1997)
DOI:10.1210/jcem.82.12.4425
Reference
PMID:9388506
  Authors
Pohlenz J, Medeiros-Neto G, Gross JL, Silveiro SP, Knobel M, Refetoff S
  Title
Hypothyroidism in a Brazilian kindred due to iodide trapping defect caused by a homozygous mutation in the sodium/iodide symporter gene.
  Journal
Biochem Biophys Res Commun 240:488-91 (1997)
DOI:10.1006/bbrc.1997.7594
Reference
PMID:9486973
  Authors
Pohlenz J, Rosenthal IM, Weiss RE, Jhiang SM, Burant C, Refetoff S
  Title
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site.
  Journal
J Clin Invest 101:1028-35 (1998)
DOI:10.1172/JCI1504
Reference
  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
  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
  Authors
Dohan O, De la Vieja A, Paroder V, Riedel C, Artani M, Reed M, Ginter CS, Carrasco N
  Title
The sodium/iodide Symporter (NIS): characterization, regulation, and medical significance.
  Journal
Endocr Rev 24:48-77 (2003)
DOI:10.1210/er.2001-0029
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