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Genetics Home Reference: your guide to understanding genetic conditions
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NR0B1

Reviewed December 2008

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genefamilies) in the Handbook.

How are changes in the NR0B1 gene related to health conditions?

Swyer syndrome - caused by mutations in the NR0B1 gene

Changes affecting the NR0B1 gene have been identified in a small number of people with Swyer syndrome, also known as 46,XY complete or pure gonadal dysgenesis.

People normally have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female sex characteristics. Females typically have two X chromosomes (46,XX), and males ordinarily have one X chromosome and one Y chromosome (46,XY).

A duplication of a region in the X chromosome can result in an extra copy of the NR0B1 gene, which leads to the production of extra DAX1 protein. Another mutation, which may also increase the amount of DAX1 protein that is produced, deletes a segment of DNA near the NR0B1 gene and probably disrupts the normal regulation of the gene. Before birth, an excess of DAX1 protein impairs the process of male sexual differentiation, causing affected individuals to develop a female appearance despite having the chromosome pattern typical of males.

X-linked adrenal hypoplasia congenita - caused by mutations in the NR0B1 gene

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.

other disorders - caused by mutations in the NR0B1 gene

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.

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.

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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) 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?

  • AHC
  • AHCH
  • AHX
  • DAX1
  • DAX-1
  • DSS
  • gonadotropin deficiency
  • GTD
  • HHG
  • NR0B1_HUMAN
  • nuclear hormone receptor
  • Nuclear receptor DAX-1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding NR0B1?

acids ; adrenal glands ; axis ; cell ; chromosome ; contiguous ; contiguous gene deletion syndrome ; critical region ; deficiency ; deletion ; differentiation ; DNA ; duplication ; dysgenesis ; gene ; gene deletion ; hormone ; hypoplasia ; hypothalamus ; kidney ; kinase ; muscular dystrophy ; mutation ; protein ; receptor ; sex chromosomes ; syndrome ; testes ; transcription ; transcription factor ; wasting

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Barbaro M, Oscarson M, Schoumans J, Staaf J, Ivarsson SA, Wedell A. Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene. J Clin Endocrinol Metab. 2007 Aug;92(8):3305-13. Epub 2007 May 15. (http://www.ncbi.nlm.nih.gov/pubmed/17504899?dopt=Abstract)
  • Clipsham R, McCabe ER. DAX1 and its network partners: exploring complexity in development. Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14567960?dopt=Abstract)
  • Iyer AK, McCabe ER. Molecular mechanisms of DAX1 action. Mol Genet Metab. 2004 Sep-Oct;83(1-2):60-73. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15464421?dopt=Abstract)
  • Lalli E, Sassone-Corsi P. DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual differentiation. Mol Endocrinol. 2003 Aug;17(8):1445-53. Epub 2003 May 29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12775766?dopt=Abstract)
  • Lehmann SG, Lalli E, Sassone-Corsi P. X-linked adrenal hypoplasia congenita is caused by abnormal nuclear localization of the DAX-1 protein. Proc Natl Acad Sci U S A. 2002 Jun 11;99(12):8225-30. Epub 2002 May 28. (http://www.ncbi.nlm.nih.gov/pubmed/12034880?dopt=Abstract)
  • Lehmann SG, Wurtz JM, Renaud JP, Sassone-Corsi P, Lalli E. Structure-function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients. Hum Mol Genet. 2003 May 1;12(9):1063-72. (http://www.ncbi.nlm.nih.gov/pubmed/12700175?dopt=Abstract)
  • Ludbrook LM, Harley VR. Sex determination: a 'window' of DAX1 activity. Trends Endocrinol Metab. 2004 Apr;15(3):116-21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15046740?dopt=Abstract)
  • McCabe ER. DAX1: Increasing complexity in the roles of this novel nuclear receptor. Mol Cell Endocrinol. 2007 Feb;265-266:179-82. Epub 2007 Jan 8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17210221?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/190)
  • Niakan KK, McCabe ER. DAX1 origin, function, and novel role. Mol Genet Metab. 2005 Sep-Oct;86(1-2):70-83. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16146703?dopt=Abstract)
  • Sjarif DR, Ploos van Amstel JK, Duran M, Beemer FA, Poll-The BT. Isolated and contiguous glycerol kinase gene disorders: a review. J Inherit Metab Dis. 2000 Sep;23(6):529-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/11032329?dopt=Abstract)
  • Smyk M, Berg JS, Pursley A, Curtis FK, Fernandez BA, Bien-Willner GA, Lupski JR, Cheung SW, Stankiewicz P. Male-to-female sex reversal associated with an approximately 250 kb deletion upstream of NR0B1 (DAX1). Hum Genet. 2007 Aug;122(1):63-70. Epub 2007 May 15. (http://www.ncbi.nlm.nih.gov/pubmed/17503084?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: December 2008
Published: December 16, 2014