The androgen receptor (AR) is a nuclear receptor protein that binds testosterone and dihydrotestosterone. In the nervous system, AR plays roles in neuronal survival, neuroprotection, and modulation of motor neuron function. CAG repeat expansions in the AR gene cause spinal and bulbar muscular atrophy (SBMA), also known as Kennedy disease, a progressive neurodegenerative disorder affecting motor neurons.
AR (Androgen Receptor) is a gene located on chromosome Xq12 that plays an important role in neurodegenerative disease. Mutations in AR are associated with Spinal and Bulbar Muscular Atrophy, Kennedy Disease, Amyotrophic Lateral Sclerosis. The gene is catalogued as NCBI Gene ID 367 and OMIM 313700.
The AR gene encodes a protein involved in key neuronal functions. It is expressed in Brain (spinal cord, motor cortex), Testis, Prostate.
Expression data is available from the Allen Human Brain Atlas.
AR mutations are linked to the following conditions:
Spinal and Bulbar Muscular Atrophy, Kennedy Disease, Amyotrophic Lateral Sclerosis