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CYP11B1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CYP11B1 gene

The CYP11B1 gene encodes the 11-beta-hydroxylase enzyme, which is vital for hormone production; mutations in this gene are associated with congenital adrenal hyperplasia and familial hyperaldosteronism.

Overview

The CYP11B1 gene provides instructions for making an enzyme called 11-beta-hydroxylase. This enzyme is found in the adrenal glands and is a member of the cytochrome P450 family. It helps produce the hormones cortisol and corticosterone by converting 11-deoxycortisol to cortisol and 11-deoxycorticosterone to corticosterone, respectively.

Cortisol helps maintain blood sugar levels, protects the body from physical stress, and suppresses inflammation. Corticosterone is a precursor to the hormone aldosterone, which helps control blood pressure by maintaining proper salt and fluid levels.

Health Conditions Related to Genetic Changes

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency

More than 80 mutations in the CYP11B1 gene cause this disorder, in which the adrenal glands produce excess male sex hormones (androgens). These mutations decrease the function of the 11-beta-hydroxylase enzyme, interfering with the production of cortisol and corticosterone. The resulting buildup of precursor molecules leads to excess androgen production, causing abnormalities of sexual development. In the classic form of the disorder, a buildup of 11-deoxycorticosterone increases salt retention, leading to high blood pressure (hypertension).

Familial hyperaldosteronism

A genetic change affecting the CYP11B1 gene causes familial hyperaldosteronism type I. This change fuses the promoter region of the CYP11B1 gene to the CYP11B2 gene. Consequently, the hormone ACTH, which normally triggers 11-beta-hydroxylase production, instead triggers the production of aldosterone synthase. This results in excessive aldosterone production and associated hypertension.

Other Names for This Gene

  • C11B1_HUMAN
  • CPN1
  • CYP11B
  • CYPXIB1
  • cytochrome P-450c11
  • cytochrome P450 11B1, mitochondrial
  • cytochrome p450 XIB1
  • steroid 11-beta-hydroxylase
  • steroid 11-beta-monooxygenase

Frequently Asked Questions

Management usually involves lifelong hormone replacement therapy with glucocorticoids to replace missing cortisol and suppress excess androgen production. Mineralocorticoids may also be prescribed to help manage blood pressure and electrolyte balance. Regular monitoring of hormone levels and blood pressure is essential, and surgical intervention may be considered for ambiguous genitalia.
n adrenal crisis is a life-threatening emergency. Warning signs include severe vomiting, diarrhea, dehydration, extreme fatigue, lethargy, low blood pressure, and shock. Immediate steps involve administering a stress dose of glucocorticoid medication (if prescribed) and seeking emergency medical attention right away.
Familial hyperaldosteronism type I primarily presents with high blood pressure (hypertension) that often begins in childhood or adolescence, and it is typically responsive to glucocorticoid treatment. Unlike CAH due to 11-beta-hydroxylase deficiency, it does not usually involve excess androgen production or abnormalities of sexual development. Management focuses on controlling blood pressure, often with low-dose glucocorticoids or mineralocorticoid receptor antagonists like spironolactone.
In female newborns, the most noticeable sign is often ambiguous genitalia. Both males and females can experience early development of secondary sexual characteristics (precocious puberty), rapid growth in childhood, and high blood pressure (hypertension) due to the buildup of certain hormone precursors. Electrolyte imbalances may also occur.
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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