General description

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.

Immunogen

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%).

Biochem/physiol Actions

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.

Features and Benefits

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