An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita
- 1 December 1994
- journal article
- research article
- Published by Springer Nature in Nature
- Vol. 372 (6507) , 635-641
- https://doi.org/10.1038/372635a0
Abstract
X-linked adrenal hypoplasia congenita is a developmental disorder of the human adrenal gland that results in profound hormonal deficiencies and is lethal if untreated. We have isolated the gene responsible for the disease, DAX-1, which is deleted or mutated in X-linked adrenal hypoplasia patients. DAX-1 encodes a new member of the nuclear hormone receptor super-family displaying a novel DNA-binding domain. The DAX-1 product acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.Keywords
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