NR0B1 Antibody – Rabbit Polyclonal

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]

NR0B1: 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. Homodimerizes with STF-1, NR5A2, NR0B2 and with COPS2. Shuttles between the cytoplasm and nucleus. Homodimers exits in the cytoplasm and in the nucleus. Homodimerization involved an interaction between amino and carboxy termini involving LXXLL motifs and steroid binding domain (AF-2 motif). Heterodimerizes with STF-1 and NROB2 through its N-terminal LXXLL motifs. Defects in NR0B1 are the cause of congenital X-linked adrenal hypoplasia. Two alternatively spliced human isoforms have been described.

Protein type: Nuclear receptor

Chromosomal Location of Human Ortholog: Xp21.3

Cellular Component: nucleoplasm; polysomal ribosome; membrane; cytoplasm; nucleus

Molecular Function: protein domain specific binding; DNA hairpin binding; protein binding; ligand-dependent nuclear receptor activity; protein homodimerization activity; DNA binding; AF-2 domain binding; RNA binding; sequence-specific DNA binding; steroid hormone receptor activity; transcription corepressor activity; transcription factor binding; steroid hormone receptor binding

Biological Process: transcription initiation from RNA polymerase II promoter; hypothalamus development; negative regulation of steroid hormone receptor signaling pathway; intracellular receptor-mediated signaling pathway; gonad development; adrenal gland development; negative regulation of transcription factor activity; male gonad development; Sertoli cell differentiation; negative regulation of transcription from RNA polymerase II promoter; negative regulation of cell differentiation; protein localization; Leydig cell differentiation; pituitary gland development; male sex determination; steroid hormone mediated signaling; spermatogenesis; gene expression; negative regulation of transcription, DNA-dependent; steroid biosynthetic process

Disease: 46,xy Sex Reversal 2; Adrenal Hypoplasia, Congenital