NR0B1

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]

Description

nuclear receptor subfamily 0 group B member 1

Protein family

Cancer-related genes, Disease related genes, Mapped to neXtProt, Mapped to UniProt SWISS-PROT, Nuclear receptors, Plasma proteins, Predicted intracellular proteins, Protein evidence (Peptideatlas), Transcription factors

Chromosome

X:p21.2 (30304206 - 30309390)

Ensembl ID

ENSG00000169297  (ver. 99.38)

Orthologs

Mouse Nr0b1: ENSMUSG00000025056

UniProt

P51843

neXtProt

NX_P51843

Human splice variants
Mouse splice variants