NR0B1
Description
The NR0B1 (nuclear receptor subfamily 0 group B member 1) is a protein-coding gene located on chromosome X.
The NR0B1 gene provides instructions for making a protein called DAX1. This protein is essential for the development and function of several endocrine tissues, including the adrenal glands, hypothalamus, pituitary, and gonads. Before birth, DAX1 helps regulate genes responsible for the formation of these tissues. After birth, DAX1 continues to regulate hormone production in these endocrine tissues.
The NR0B1 gene encodes an orphan nuclear receptor that plays a crucial role in the development of the hypothalamic-pituitary-adrenal-gonadal axis. It functions as a coregulator, inhibiting the transcriptional activity of other nuclear receptors through heterodimerization. Additionally, it may contribute to embryonic development and the maintenance of pluripotency in embryonic stem cells.
NR0B1 is also known as AHC, AHCH, AHX, DAX-1, DAX1, DSS, GTD, HHG, NROB1, SRXY2.
Associated Diseases
- Adrenal hypoplasia, congenital
- 46,XY partial gonadal dysgenesis
- 46,XY complete gonadal dysgenesis
- 46,XX testicular difference of sex development
- Dosage-Sensitive sex reversal
- X-linked adrenal hypoplasia congenita
- Swyer syndrome
