NR0B1
Domain
Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with NR5A1 and NROB2 through its N-terminal LXXLL motifs.
Function
Orphan nuclear receptor. Component of a cascade required for the development of the hypothalamic-pituitary-adrenal-gonadal axis. Acts as a coregulatory protein that inhibits the transcriptional activity of other nuclear receptors through heterodimeric interactions. May also have a role in the development of the embryo and in the maintenance of embryonic stem cell pluripotency (By similarity).
Involvement in disease
Adrenal hypoplasia, congenital
AHC
A disorder of adrenal gland development characterized by absence of the permanent zone of the adrenal cortex, structural disorganization of the adrenal glands, adrenal insufficiency and profound hormonal deficiencies. AHC patients manifest primary adrenal failure usually in early infancy, and hypogonadotropic hypogonadism leading to absent or incomplete sexual maturation. AHC can be inherited in an X-linked or autosomal recessive pattern.
None
The disease is caused by variants affecting the gene represented in this entry.
46,XY sex reversal 2
SRXY2
A condition characterized by male-to-female sex reversal in the presence of a normal 46,XY karyotype.
None
The disease is caused by variants affecting the gene represented in this entry. XY individuals with a duplication of part of the short arm of the X chromosome and an intact SRY gene develop as females. The single X chromosome in these individuals does not undergo X-chromosome inactivation; therefore, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the duplicated region. Individuals with deletion of this region develop as males. Genes within the dosage-sensitive sex reversal region are, therefore, not essential for testis development, but, when present in a double dose, interfere with testis formation.
Sequence Similarities
Belongs to the nuclear hormone receptor family. NR0 subfamily.
Cellular localization
- Nucleus
- Cytoplasm
- Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.
Alternative names
AHC, DAX1, NR0B1, Nuclear receptor subfamily 0 group B member 1, DSS-AHC critical region on the X chromosome protein 1, Nuclear receptor DAX-1