Aliases for NR0B1 Gene
External Ids for NR0B1 Gene
Previous HGNC Symbols for NR0B1 Gene
Previous GeneCards Identifiers for NR0B1 Gene
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. [provided by RefSeq, Jul 2008]
GeneCards Summary for NR0B1 Gene
NR0B1 (Nuclear Receptor Subfamily 0 Group B Member 1) is a Protein Coding gene. Diseases associated with NR0B1 include Adrenal Hypoplasia, Congenital and 46,Xy Sex Reversal 2. Among its related pathways are Gene Expression and Aldosterone synthesis and secretion. Gene Ontology (GO) annotations related to this gene include DNA-binding transcription factor activity and sequence-specific DNA binding. An important paralog of this gene is NR0B2.
UniProtKB/Swiss-Prot Summary for NR0B1 Gene
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).