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SERPINA6 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SERPINA6 gene

The SERPINA6 gene provides instructions for making corticosteroid-binding globulin (CBG), a protein that regulates the availability of cortisol in the body.

Normal Function

The SERPINA6 gene provides instructions for making a protein called corticosteroid-binding globulin (CBG). CBG binds to the hormone cortisol, which is responsible for maintaining blood glucose levels, protecting the body from stress, and suppressing inflammation. When bound to CBG, cortisol is inactive. CBG acts as a delivery system, transporting cortisol to tissues and releasing it when needed. By binding and releasing cortisol, CBG regulates the amount of active hormone available for use in the body.

Health Conditions Related to Genetic Changes

Corticosteroid-binding globulin deficiency

Mutations in the SERPINA6 gene can cause corticosteroid-binding globulin deficiency. This condition often decreases the ability of CBG to bind to cortisol, or in severe cases, prevents the production of the protein entirely. Symptoms may include:

  • Extreme tiredness (fatigue)
  • Low blood pressure (hypotension)
  • Chronic pain

Some individuals with this condition may be asymptomatic. Because the body often compensates for the lack of bound cortisol by decreasing total cortisol production, the exact mechanism linking these genetic changes to specific symptoms remains under investigation.

Other disorders

A normal variation (polymorphism) in the SERPINA6 gene, specifically the Ala224Ser (A224S) change, has been associated with an increased risk of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). This change likely increases the amount of available CBG protein, though the exact role this plays in the development of ME/CFS is not yet fully understood.

Other Names for This Gene

  • CBG
  • CBG_HUMAN
  • corticosteroid binding globulin
  • corticosteroid-binding globulin
  • serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
  • serpin A6
  • serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6
  • transcortin

Frequently Asked Questions

Management for CBG deficiency often focuses on addressing specific symptoms if they are present. Since the body can sometimes compensate by reducing overall cortisol production, treatment may not always be necessary, especially for asymptomatic individuals. For those with symptoms like fatigue or low blood pressure, supportive care and monitoring of cortisol levels may be recommended, though specific treatments for the deficiency itself are still being researched.
The SERPINA6 gene provides instructions for making corticosteroid-binding globulin (CBG). CBG acts like a transport and storage system for cortisol, a hormone vital for managing stress, blood sugar, and inflammation. When cortisol is bound to CBG, it is inactive. CBG releases cortisol to tissues as needed, ensuring that the right amount of active hormone is available throughout the body.
Corticosteroid-binding globulin deficiency can lead to symptoms such as extreme tiredness (fatigue), low blood pressure (hypotension), and chronic pain. However, some individuals with this condition may not experience any symptoms at all. The body often tries to compensate for the lack of bound cortisol, so the exact link between the genetic change and symptoms is still being investigated.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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