SERPINA7 gene
The SERPINA7 gene provides instructions for making thyroxine-binding globulin, a protein that transports thyroid hormones through the bloodstream.
Normal Function
The SERPINA7 gene provides instructions for making a protein called thyroxine-binding globulin. This protein attaches (binds) to hormones produced by the thyroid gland, which are essential for regulating growth, brain development, and metabolism. In the bloodstream, thyroid hormones are typically attached to thyroxine-binding globulin and similar proteins.
Health Conditions Related to Genetic Changes
Inherited thyroxine-binding globulin deficiency
Variants in the SERPINA7 gene can lead to inherited thyroxine-binding globulin deficiency, which typically does not cause health problems. There are two forms:
- Partial form: Reduces the amount of functioning thyroxine-binding globulin.
- Complete form: Causes a more significant loss of functioning thyroxine-binding globulin.
Some variants produce a shortened, non-functional protein, while others change a single amino acid, leading to reduced levels. Because this deficiency reduces the total amount of thyroxine in the blood, it can be mistaken for more serious thyroid disorders like hypothyroidism.
Other disorders
Changes involving the SERPINA7 gene can also cause thyroxine-binding globulin excess. This condition is caused by the presence of one or more extra copies of the SERPINA7 gene in each cell, leading to levels two to four times higher than normal. Like the deficiency, this condition typically does not cause health problems.
Other Names for This Gene
- alpha-1 antiproteinase, antitrypsin
- serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
- serine (or cysteine) proteinase inhibitor, clade A, member 7
- serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7
- TBG
- thyroxin-binding globulin
- thyroxine-binding globulin