Primary Identifier | MGI:1352460 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 11614 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables RNA binding activity and transcription corepressor activity. Involved in negative regulation of DNA-templated transcription. Acts upstream of or within several processes, including adrenal gland development; endodermal cell differentiation; and male gonad development. Located in cytoplasm; nucleus; and ribosome. Is expressed in several structures, including adrenal gland; branchial arch; central nervous system; early conceptus; and genitourinary system. Used to study X-linked adrenal hypoplasia congenita. Human ortholog(s) of this gene implicated in 46,XY sex reversal 2 and X-linked adrenal hypoplasia congenita. Orthologous to human NR0B1 (nuclear receptor subfamily 0 group B member 1). PHENOTYPE: Mutations that inactivate this X-linked gene result in abnormal repoductive development in the hemizygote, ranging from defects in testes development and spermatogenesis to complete male to female sex reversal depending on genetic background. [provided by MGI curators] |