Recombinant Human Nuclear receptor subfamily 0 group B member 1 (NR0B1)

Uniprot Id

P51843

Target Species

Human

Target Name

NR0B1

Target Full Name

Nuclear receptor subfamily 0 group B member 1

Target 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.

Target Involvement

Adrenal hypoplasia, congenital (AHC); 46,XY sex reversal 2 (SRXY2)

Target Subcellular Location

Nucleus. Cytoplasm. Note=Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus.

Target Protein Families

Nuclear hormone receptor family, NR0 subfamily

Target Synonyms

AHC; AHCH ; AHX; DAX 1; DAX1; Dosage sensitive sex reversal; DSS ; DSS AHC critical region on the X chromosome protein 1; DSS-AHC critical region on the X chromosome protein 1; GTD; HHG; Nr0b1; NR0B1_HUMAN; NROB1; Nuclear hormone receptor; Nuclear receptor 0B1; Nuclear receptor DAX 1; Nuclear receptor DAX-1; Nuclear receptor DAX1; Nuclear receptor subfamily 0 group B member 1; SRXY2

Target Background

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism.