DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1) is a nuclear receptor protein that in humans is encoded by the NR0B1 gene (nuclear receptor subfamily 0, group B, member 1).

The NR0B1 gene provides instructions for making a protein called DAX1. Learn about this gene and related health conditions.

DAX1 was initially identified as part of a contiguous gene syndrome and is known to function in the proper formation of the adult adrenal gland. It has been hypothesized that DAX1 is responsible for the establishment and maintenance of the steroidogenic axis of development.

DAX1 (locus: Xp21.2) encodes a nuclear receptor required for testis, ovary, adrenal, and gonadotroph differentiation. DAX1 duplications result in dosage-sensitive sex reversal by antagonizing SOX9 expression, leading to 46,XY testicular dysgenesis, ovarian development, and female or ambiguous external genitalia. Associated phenotypes also ...

DAX-1 (NR0B1) and SF-1 (NR5A1) are two nuclear receptor transcription factors that play a key role in human adrenal and reproductive development. Loss of DAX-1 function is classically associated with X-linked adrenal hypoplasia congenita.

DAX1 (NR0B1) is a nuclear receptor with a characteristic C-terminal ligand binding domain, but an atypical DNA binding domain. Mutations in the DAX1 gene cause adrenal hypoplasia congenita (AHC) establishing its biological importance.

2016年9月22日 · The DAX1 gene encodes a deduced 470-amino acid protein that belongs to the nuclear hormone receptor superfamily and displays a novel DNA-binding domain at the N terminus. The C terminus shows characteristics of a …

DAX1 (dosage-sensitive sex reversal, adrenal hypoplasia critical region, on chromosome X, gene 1; also known as NROB1, nuclear receptor subfamily 0, group B, member 1) encodes a nuclear receptor that is expressed in embryonic stem (ES) cells, ...

2005年9月1日 · Here, we review DAX1/Dax1 known functional roles and the recently hypothesized function in the development of the embryo and in the maintenance of embryonic stem cell pluripotency.

2023年5月29日 · Here the authors report that estrogen receptor alpha (ERα) interacts with the genome and the nuclear receptor co-repressor NR0B1 (DAX1) to manifest region-specific actions on Kiss1 expression.