Nuclear receptor 0B1

GWB-5430A3

Receptor that may be a component of a cascade required for development of steroidogenic tissues. Acts as a dominant negative regulator of transcription mediated by the retinoic acid receptor.

Nucleus.

Belongs to the nuclear hormone receptor family. NR0 subfamily. Summary: This protein is a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [1] Mantovani G. De Menis E. Borretta G. Radetti G. Bondioni S. Spada A. Persani L. and Beck-Peccoz P. DAX1 and X-linked adrenal hypoplasia congenita: clinical and molecular analysis in five patients[2] Mantovani G. Mancini M. Gazzano G. Spada A. Colpi G. M. Beck-Peccoz P. and Persani L. Somatic mutational analysis of DAX1 in testes from men with idiopathic azoospermia[3] Saito S. Ito K. Suzuki T. Utsunomiya H. Akahira J. Sugihashi Y. Niikura H. Okamura K. Yaegashi N. and Sasano H. Orphan nuclear receptor DAX-1 in human endometrium and its disorders[4] Achermann J. C. et al. The role of SF1/DAX1 in adrenal and reproductive function[5] Zwermann O. Beuschlein F. Lalli E. Klink A. Sassone-Corsi P. and Reincke M. Clinical and molecular evidence for DAX-1 inhibition of steroidogenic factor-1-dependent ACTH receptor gene expression[6] Zanaria E. Muscatelli F. Bardoni B. Strom T. M. Guioli S. Guo W. Lalli E. Moser C. Walker A. P. McCabe E. R. B. et al. An unusual member of the nuclear hormone receptor superfamily responsible for X-linked adrenal hypoplasia congenita. [7] Guo W. Burris T. P. Zhang Y. H. Huang B. L. Mason J. Copeland K. C. Kupfer S. R. Pagon R. A. McCabe E. R. Genomic sequence of the DAX1 gene: an orphan nuclear receptor responsible for X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism. [8] Strausberg R. L. Feingold E. A. Grouse L. H. Derge J. G. Klausner R. D. Collins F. S. Wagner L. Shenmen C. M. Schuler G. D. Altschul S. F. et al. Generation and initial analysis of more than 15 000 full-length human and mouse cDNA sequences. [9] Altincicek B. Tenbaum S. P. Dressel U. Thormeyer D. Renkawitz R. Baniahmad A. Interaction of the corepressor Alien with DAX-1 is abrogated by mutations of DAX-1 involved in adrenal hypoplasia congenita. [10] Muscatelli F. Strom T. M. Walker A. P. Zanaria E. Recan D. Meindl A. Bardoni B. Guioli S. Zehetner G. Rabl W. et al. Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.