Nr5a1 - nuclear receptor subfamily 5, group A, member 1

Enables DNA-binding transcription factor activity; double-stranded DNA binding activity; and sequence-specific DNA binding activity. Involved in several processes, including calcineurin-mediated signaling; positive regulation of male gonad development; and response to gonadotropin-releasing hormone. Located in nucleus. Used to study gonadal dysgenesis. Human ortholog(s) of this gene implicated in 46,XX sex reversal 4; 46,XY sex reversal 3; Zellweger syndrome; primary ovarian insufficiency 7; and spermatogenic failure 8. Orthologous to human NR5A1 (nuclear receptor subfamily 5 group A member 1). [provided by Alliance of Genome Resources, Apr 2022]