Molecular basis of inherited thyroxine-binding globulin defects

Onno E. Janssen, Richard Bertenshaw, Kyoko Takeda, Roy E Weiss, Samuel Refetoff

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Thyroxine-binding globulin (TBG) is a liver glycoprotein that transports thyroid hormones in serum. Inherited TBG defects appear as partial or complete deficiency and TBG excess. Sequencing of the TBG gene located on the X-chromosome has revealed nucleotide substitutions in partial TBG deficiency, and substitutions or deletions in complete deficiency variants. Whereas the deduced changes of the primary structure of the protein have been sufficient to explain the observed alterations of properties in some of the TBG variants, this has not been the case in other inherited TBG defects studied at the gene level. Further analysis of these and other variants may provide helpful information on glycoprotein synthesis and processing and on protein-hormone interaction.

Original languageEnglish (US)
Pages (from-to)49-53
Number of pages5
JournalTrends in Endocrinology and Metabolism
Volume3
Issue number2
DOIs
StatePublished - 1992
Externally publishedYes

Fingerprint

Thyroxine-Binding Globulin
Glycoproteins
X Chromosome
Thyroid Hormones
Genes
Amino Acid Sequence
Nucleotides
Hormones
Liver
Serum
Proteins

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism

Cite this

Molecular basis of inherited thyroxine-binding globulin defects. / Janssen, Onno E.; Bertenshaw, Richard; Takeda, Kyoko; Weiss, Roy E; Refetoff, Samuel.

In: Trends in Endocrinology and Metabolism, Vol. 3, No. 2, 1992, p. 49-53.

Research output: Contribution to journalArticle

Janssen, Onno E. ; Bertenshaw, Richard ; Takeda, Kyoko ; Weiss, Roy E ; Refetoff, Samuel. / Molecular basis of inherited thyroxine-binding globulin defects. In: Trends in Endocrinology and Metabolism. 1992 ; Vol. 3, No. 2. pp. 49-53.
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