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Reviewed March 2014
What is the official name of the SERPINA6 gene?
The official name of this gene is “serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6.”
SERPINA6 is the gene's official symbol. The SERPINA6 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the SERPINA6 gene?
The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG), which is primarily produced in the liver. The CBG protein attaches (binds) to a hormone called cortisol, which has numerous functions, such as maintaining blood sugar levels, protecting the body from stress, and suppressing inflammation. When cortisol is bound to CBG, the hormone is turned off (inactive). Normally, around 80 to 90 percent of the body's cortisol is bound to CBG, 5 to 10 percent is unbound and active, and the remaining cortisol is bound to another protein called albumin. When cortisol is needed in the body, CBG delivers the cortisol to the appropriate tissues and releases it, causing cortisol to become active. In this manner, CBG regulates the amount of cortisol that is available for use in the body. The amount of total cortisol in the body consists of both bound (inactive) and unbound (active) cortisol.
Does the SERPINA6 gene share characteristics with other genes?
The SERPINA6 gene belongs to a family of genes called SERPIN (serine (or cysteine) peptidase inhibitors).
A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.
How are changes in the SERPINA6 gene related to health conditions?
Where is the SERPINA6 gene located?
Cytogenetic Location: 14q32.1
Molecular Location on chromosome 14: base pairs 94,304,247 to 94,323,350
The SERPINA6 gene is located on the long (q) arm of chromosome 14 at position 32.1.
More precisely, the SERPINA6 gene is located from base pair 94,304,247 to base pair 94,323,350 on chromosome 14.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about SERPINA6?
You and your healthcare professional may find the following resources about SERPINA6 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the SERPINA6 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding SERPINA6?
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (6 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.