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Reviewed March 2015
What is the official name of the NR0B1 gene?
The official name of this gene is “nuclear receptor subfamily 0, group B, member 1.”
NR0B1 is the gene's official symbol. The NR0B1 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 NR0B1 gene?
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.
Does the NR0B1 gene share characteristics with other genes?
The NR0B1 gene belongs to a family of genes called NR (nuclear hormone receptors).
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 NR0B1 gene related to health conditions?
Genetics Home Reference provides information about Swyer syndrome, which is also associated with changes in the NR0B1 gene.
Where is the NR0B1 gene located?
Cytogenetic Location: Xp21.3
Molecular Location on the X chromosome: base pairs 30,304,421 to 30,309,377
The NR0B1 gene is located on the short (p) arm of the X chromosome at position 21.3.
More precisely, the NR0B1 gene is located from base pair 30,304,421 to base pair 30,309,377 on the X chromosome.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about NR0B1?
You and your healthcare professional may find the following resources about NR0B1 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 NR0B1 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 NR0B1?
acids ; adrenal glands ; axis ; chromosome ; contiguous ; contiguous gene deletion syndrome ; critical region ; deficiency ; deletion ; gene ; gene deletion ; hormone ; hypoplasia ; hypothalamus ; kidney ; kinase ; muscular dystrophy ; protein ; receptor ; syndrome ; testes ; transcription ; transcription factor ; wasting
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)