nuclear receptor subfamily 0 group B member 1
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.
More than 110 NR0B1 mutations that cause X-linked adrenal hypoplasia congenita have been identified. Some of these genetic changes are deletions of all or part of the NR0B1 gene. Other mutations lead to the production of an abnormally short version of the DAX1 protein. Still other mutations change single protein building blocks (amino acids) in a critical region of DAX1.
Most of the mutations 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 hormone-producing 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.
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 adrenal hypoplasia congenita, individuals with this condition may have delayed development and problems regulating their blood sugar levels. In rare cases, the deletion also includes the gene associated with Duchenne 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.
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/nr0b1