Entrez gene ID | | 6906 |
Official gene symbol | | SERPINA7 |
Full name | | serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 |
Aliases | | ,FLJ17820,TBG, |
Gene 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. |
Location | | Chromosome: X Locus: Xq22.2 |
Gene position | | 105282718 - 105277190 Map Viewer |
Gene orientation | | minus |
Gene size | | 5529 bp |
Gene sequence |
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OMIM ID | | 314200 |
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