Meyahealth
Home
ENES
HomeGeneticsGeneNR0B1 gene
Back to Gene

NR0B1 gene

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

NR0B1 gene

The NR0B1 gene provides instructions for the DAX1 protein, which is vital for the development and function of hormone-producing tissues, including the adrenal glands and gonads.

Normal Function

The NR0B1 gene provides instructions for making a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing (endocrine) tissues in the body. These tissues include the small glands located on top of each kidney (the adrenal glands), two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). Before birth, the DAX1 protein helps regulate genes that direct the formation of these tissues. DAX1 also helps regulate hormone production in endocrine tissues after they have been formed.

Health Conditions Related to Genetic Changes

X-linked adrenal hypoplasia congenita

Several variants (also called mutations) in the NR0B1 gene have been found to cause X-linked adrenal hypoplasia congenita. This condition affects the development of the adrenal glands, which are endocrine organs (glands) located on top of each kidney. Some of the genetic changes are deletions of all or part of the NR0B1 gene. Other variants lead to the production of an abnormally short version of the DAX1 protein. Still other variants change single protein building blocks (amino acids) in a critical region of DAX1.

Most of the variants responsible for X-linked adrenal hypoplasia congenita prevent the NR0B1 gene from producing any active DAX1 protein. A shortage of DAX1 disrupts the normal development and function of endocrine tissues in the body. The main characteristics of this condition result when endocrine glands such as the adrenals, hypothalamus, pituitary, and gonads do not produce the right amounts of specific hormones.

Swyer syndrome

MedlinePlus Genetics provides information about Swyer syndrome.

Other disorders

In some cases, genetic material is deleted from a region of the X chromosome that contains several genes, including NR0B1. This deletion results in a condition called adrenal hypoplasia congenita with complex glycerol kinase deficiency. In addition to the signs and symptoms of X-linked adrenal hypoplasia congenita (described above), individuals with this condition may have delayed development and problems regulating their blood sugar (glucose) levels. In rare cases, the deletion also includes the gene associated with Duchenne and Becker muscular dystrophy. People with this larger deletion have progressive muscle weakness and wasting in addition to the other features of adrenal hypoplasia congenita with complex glycerol kinase deficiency.

Other Names for This Gene

  • AHC
  • AHCH
  • AHX
  • DAX-1
  • DAX1
  • DSS
  • gonadotropin deficiency
  • GTD
  • HHG
  • NR0B1_HUMAN
  • nuclear hormone receptor
  • nuclear receptor DAX-1
  • nuclear receptor subfamily 0, group B, member 1

Frequently Asked Questions

Because the NR0B1 gene is located on the X chromosome, the condition is inherited in an X-linked recessive pattern. This means males, who have only one X chromosome, are primarily affected if they inherit a mutated copy. Females, who have two X chromosomes, are typically carriers and are not affected because the normal copy on their second X chromosome produces enough functional DAX1 protein. However, in rare cases, females can be affected if they inherit two mutated copies or if the X chromosome with the normal gene is inactivated (a phenomenon known as skewed X-inactivation).
The most common and earliest sign is primary adrenal insufficiency, which often presents in infancy with symptoms such as poor feeding, vomiting, weight loss, and dehydration. A specific hallmark in male infants is ambiguous genitalia or undescended testes, resulting from the lack of DAX1 protein needed for normal gonadal development. Without treatment, these symptoms can lead to life-threatening adrenal crises characterized by low blood pressure and low blood sugar.
Yes, individuals with X-linked adrenal hypoplasia congenita often have an associated immune deficiency called Common Variable Immunodeficiency (CVID). This is because the NR0B1 gene is also expressed in immune cells, and the lack of DAX1 protein can impair the development of B-cells, leading to low antibody levels and increased susceptibility to recurrent infections. This immune component is distinct from the hormonal issues but is a critical part of the clinical picture.
Diagnosis is typically confirmed through a combination of clinical evaluation, hormone blood tests, and genetic testing. Blood tests will show low levels of cortisol and ACTH (indicating the problem is in the adrenal gland itself, not the pituitary) and may reveal low sex hormones. Genetic testing for mutations in the NR0B1 gene is the definitive diagnostic tool, which is crucial for family counseling and identifying carrier status in female relatives.
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.