Research Article: Partial Thyroid Hormone-Binding Globulin Deficiency: A Case Report and Literature Review
Abstract:
Thyroxine-binding globulin (TBG) is the main binding protein of the thyroid hormone in the human body. It combines around % of thyroxine (T) and % of triiodofoxygen (T). Thyroxine-binding globulin deficiency is a rare thyroid disease, mostly caused by a gene mutation, and is generally acquired through X-linked recessive inheritance. The gene encoding TBG is named the Serpina gene, while it is also known as the TBG gene. It is located on Xq , spans . kb and contains five exons. This gene encodes a kDa protein, a mature protein containing amino acids, and is glycosylated by four glycosyl chains after translation. The Serpina gene mutation leads to the substitution of amino acid or the truncation of mature proteins, resulting in TBG deficiency or a decreased affinity with T, or both. Genetic TBG defects, including changes in protein synthesis, secretion and stability, result in TBG variants. Reports from different countries have described how these mutations in the coding and non-coding regions of the Serpina gene lead to complete deficiency (TBG-CD) and partial deficiency (TBG-PD).
Introduction:
Thyroxine-binding globulin (TBG) is the main binding protein of the thyroid hormone in the human body. It combines around % of thyroxine (T) and % of triiodofoxygen (T). Thyroxine-binding globulin deficiency is a rare thyroid disease, mostly caused by a gene mutation, and is generally acquired through X-linked recessive inheritance. The gene encoding TBG is named the Serpina gene, while it is also known as the TBG gene. It is located on Xq , spans . kb and contains five exons. This gene encodes a kDa protein, a…
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