NR0B1
MIM.300473 Xp21.3-p21.2
NR0B1 (DAX1) is an orphan member of the nuclear receptor (NRs) superfamily. It functions in the proper formation of the adult adrenal gland.
NR0B1 has a unique role as a member of NRs in that it acts as a coregulatory protein that inhibits the transcriptional activity of other NRs
Pathology
germline mutations of DAX1 in
- congenital adrenal hypoplasia (AHC) (MIM.300200)
- and hypogonadotropic hypogonadism
- and bilateral cryptorchidism
- dosage sensitive male-to-female sex reversal (MIM.300018)
- delayed-onset adrenal insufficiency and hypogonadotrophic hypogonadism
Reviews
Ludbrook LM, Harley VR. Sex determination: a ’window’ of DAX1 activity. Trends Endocrinol Metab. 2004 Apr;15(3):116-21. PMID: #15046740#
References
Iyer, A. K.; Zhang, Y.-H.; McCabe, E. R. B. : LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)-DAX1A heterodimerization. Molec. Genet. Metab. 92: 151-159, 2007. PubMed ID : #17686645#
Iyer, A. K.; Zhang, Y.-H.; McCabe, E. R. B. : Dosage-sensitive sex reversal adrenal hypoplasia congenita critical region on the X chromosome, gene 1 (DAX1) (NR0B1) and small heterodimer partner (SHP) (NR0B2) form homodimers individually, as well as DAX1-SHP heterodimers. Molec. Endocr. 20: 2326-2342, 2006. PubMed ID : #16709599#
Lin, L.; Gu, W.-X.; Ozisik, G.; To, W. S.; Owen, C. J.; Jameson, J. L.; Achermann, J. C. : Analysis of DAX1 (NR0B1) and steroidogenic factor-1 (NR5A1) in children and adults with primary adrenal failure: ten years’ experience. J. Clin. Endocr. Metab. 91: 3048-3054, 2006. PubMed ID : #16684822#
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Molecular mechanisms of DAX1 action. Iyer AK, McCabe ER. Mol Genet Metab. 2004 Sep-Oct;83(1-2):60-73. PMID: #15464421#
NR0B1A: an alternatively spliced form of NR0B1. Ho J, Zhang YH, Huang BL, McCabe ER. Mol Genet Metab. 2004 Dec;83(4):330-6. PMID: #15589120#
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Lalli, E.; Ohe, K.; Hindelang, C.; Sassone-Corsi, P. : Orphan receptor DAX-1 is a shuttling RNA binding protein associated with polyribosomes via mRNA. Molec. Cell. Biol. 20: 4910-4921, 2000. PubMed ID : #10848616#
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