Primary Identifier | MGI:88064 | Organism | mouse, laboratory |
Chromosome | X | NCBI Gene Number | 11835 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including POU domain binding activity; RNA polymerase II core promoter sequence-specific DNA binding activity; and nuclear receptor activity. Involved in androgen receptor signaling pathway and cellular response to testosterone stimulus. Acts upstream of or within several processes, including mammary gland development; positive regulation of signal transduction; and reproductive structure development. Located in cytoplasm; nucleus; and plasma membrane. Is expressed in several structures, including brain; embryo mesenchyme; genitourinary system; heart; and rectum. Used to study Kennedy's disease; androgen insensitivity syndrome; obesity; polycystic ovary syndrome; and type 2 diabetes mellitus. Human ortholog(s) of this gene implicated in several diseases, including alcohol dependence; attention deficit hyperactivity disorder; disorder of sexual development (multiple); reproductive organ cancer (multiple); and spinal muscular atrophy (multiple). Orthologous to human AR (androgen receptor). PHENOTYPE: Hemizygous mutant males are androgen-resistant and therefore have small, undescended testes, and lack epididymal structures, vas deferens, and male accessory glands. They resemble females physically and behaviorally, but lack female reproductive organs. [provided by MGI curators] |