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, With Hypogonadotropic Hypogonadism and 46Xy Sex Reversal 2, Dosage-Sensitive. Among its related pathways are Gene Expression and GPCR Pathway. GO annotations related to this gene include transcription factor activity, sequence-specific DNA binding and sequence-specific DNA binding. An important paralog of this gene is NR0B2.
UniProtKB/Swiss-Prot 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).