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NR0B1 gene
URL of this page: https://medlineplus.gov/genetics/gene/nr0b1/

NR0B1 gene

nuclear receptor subfamily 0 group B member 1

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.

More About This Health Condition

Swyer syndrome

MedlinePlus Genetics provides information about Swyer syndrome

More About This Health Condition

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

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

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. doi: 10.1210/jc.2007-0505. Epub 2007 May 15. Citation on PubMed
  • Clipsham R, McCabe ER. DAX1 and its network partners: exploring complexity in development. Mol Genet Metab. 2003 Sep-Oct;80(1-2):81-120. doi: 10.1016/j.ymgme.2003.08.023. Citation on PubMed
  • Iyer AK, McCabe ER. Molecular mechanisms of DAX1 action. Mol Genet Metab. 2004 Sep-Oct;83(1-2):60-73. doi: 10.1016/j.ymgme.2004.07.018. Citation on PubMed
  • King TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113. Citation on PubMed
  • 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. doi: 10.1210/me.2003-0159. Epub 2003 May 29. Citation on PubMed
  • 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. doi: 10.1073/pnas.122044099. Epub 2002 May 28. Citation on PubMed or Free article on PubMed Central
  • 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. doi: 10.1093/hmg/ddg108. Citation on PubMed
  • Ludbrook LM, Harley VR. Sex determination: a 'window' of DAX1 activity. Trends Endocrinol Metab. 2004 Apr;15(3):116-21. doi: 10.1016/j.tem.2004.02.002. Citation on PubMed
  • McCabe ER. DAX1: Increasing complexity in the roles of this novel nuclear receptor. Mol Cell Endocrinol. 2007 Feb;265-266:179-82. doi: 10.1016/j.mce.2006.12.017. Epub 2007 Jan 8. Citation on PubMed or Free article on PubMed Central
  • Niakan KK, McCabe ER. DAX1 origin, function, and novel role. Mol Genet Metab. 2005 Sep-Oct;86(1-2):70-83. doi: 10.1016/j.ymgme.2005.07.019. Citation on PubMed
  • 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. doi: 10.1023/a:1005660826652. Citation on PubMed
  • 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. doi: 10.1007/s00439-007-0373-8. Epub 2007 May 15. Citation on PubMed
  • Wikiera B, Jakubiak A, Laczmanska I, Noczynska A, Smigiel R. Complex glycerol kinase deficiency - long-term follow-up of two patients. Pediatr Endocrinol Diabetes Metab. 2021;27(3):227-231. doi: 10.5114/pedm.2021.109681. Citation on PubMed

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