Summary:
There are three proteins including thyroxine-binding globulin (TBG), transthyretin and albumin responsible for carrying the thyroid hormones thyroxine (T4) and 3,5,3 -triiodothyronine (T3) in the bloodstream. This gene encodes the major thyroid hormone transport protein, TBG, in serum. It belongs to the serpin family in genomics, but the protein has no inhibitory function like many other members of the serpin family. Mutations in this gene result in TGB deficiency, which has been classified as partial deficiency, complete deficiency, and excess, based on the level of serum TBG. Alternatively spliced transcript variants encoding different isoforms have been found, but the full-length nature of these variants has not been determined. (PubMed Links)
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| Domains and Motifs:
SP: Signal Peptide SERPIN: SERine Proteinase INhibitors
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Gene Ontology:
KEGG - Enzyme ID(s): KEGG - Orthology:
None Available
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KEGG - Pathway(s):
None Available
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Nomenclature / Alternative Names:
Thyroxine binding globulin of serum; TBG; T4 binding globulin; TBG, serum; Serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
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Approved Symbol:
| (De-) Phosphorylations:
Total (de-) phosphorylation sites: 0 |
No human (de-) phosphorylation sites; | No platelet phosphorylation sites |
Phosphorylation Targets:
Total phosphorylation targets: 0 |
Human phosphorylation targets: 0; | Predicted platelet targets: 0 |
| Protein Characteristics:
| Associated Drugs (DrugBank Accession):
None Available
Associated Genetic Diseases:
Thyroxine-binding globulin deficiency, complete(Pd); Thyroxine-binding globulin deficiency, complete, Buffalo type(Pd); Thyroxine-binding globulin deficiency, complete, Jackson type(Pd); Thyroxine-binding globulin deficiency, complete, Japanese type(Pd); Thyroxine-binding globulin deficiency, complete, Kankakee type(Pd); Thyroxine-binding globulin deficiency, complete, Negev type(Pd); Thyroxine-binding globulin deficiency, partial, Gary type(Pd); Thyroxine-binding globulin deficiency, partial, Japanese type(Pd); Thyroxine-binding globulin deficiency, partial, Montreal type(Pd); Thyroxine-binding globulin deficiency, partial, Quebec type(Pd); Thyroxine-binding globulin Excess(Pd); Thyroxine-binding globulin, Chicago(Pd); Thyroxine-binding globulin, slow(Pd); Thyroxine-binding globulin, variant A(Pd); Thyroxine-binding globulin, variant P(Pd)
| Predicted Transmembrane Domains:
| Additional Identifiers:
HPRD: | 02438 | | Entrez Gene ID: | 6906 | | OMIM ID: | 314200 | | Swissprot Accession: | P05543; | | |
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