Nuclear receptor subfamily 0 group B member 1 (NR0B1), also known as dosage-sensitive sex-reversal, adrenal hypoplasia congenital critical region on the X chromosome, protein 1 (DAX1), is an orphan nuclear receptor. The gene encoding this 470-amino acid protein consists of two exons. The protein possesses a carboxy-terminal domain (CTD) and an amino-terminal domain (NTD) which has three short repeats, each containing an LXXLL motif. It is expressed in the anterior pituitary, hypothalamus, adrenal cortex and gonads. The NR0B1 gene is localized on human chromosome Xp21.
Inmunógeno
Synthetic 19 amino acid peptide from ligand-binding domain of human DAX1. Percent identity with other species by BLAST analysis: Human, Chimpanzee, Gorilla, Orangutan, Gibbon, Monkey (100%); Marmoset (95%); Rabbit (84%).
Acciones bioquímicas o fisiológicas
Nuclear receptor subfamily 0 group B member 1 (NR0B1) has adrenal and reproductive functions and acts as a repressor of gene transcription. The protein inhibits the functioning of steroidogenic factor 1 (SF-1), an orphan nuclear receptor. Mutations in the NR0B1 gene have been associated with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.
Características y beneficios
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Forma física
Solution in phosphate-buffered saline containing less than 0.1% sodium azide.
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X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Identification and in vitro study of a novel small indel in the NR0B1 gene.
Yu T
Molecular Medicine Reports (2016)
A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism.
Liu Y
Journal of Pediatric Endocrinology & Metabolism : JPEM (2017)
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Filtros activos
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