nuclear receptor subfamily 0 group B member 1
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A 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.
Normal function
A 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.
Conditions referring to this gene or chromosome
Other names
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
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Leitura adicional e referências
- nuclear receptor subfamily 0 group B member 1; MedlinePlus, National Library of Medicine.
- 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.
- 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.
- 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.
- King TF, Conway GS. Swyer syndrome. Curr Opin Endocrinol Diabetes Obes. 2014 Dec;21(6):504-10. doi: 10.1097/MED.0000000000000113.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
- 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.
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