androgen receptor
MIM.313700 Xq11-q12
dihydrotestosterone receptor, AR
Pathology
germline mutations in:
- androgen insensitivity syndrome (AIS) (MIM.300068)
- Reifenstein syndrome (MIM.12300)
- Kennedy spinal and bulbar muscular atrophy (SBMA) (MIM.313200)
- prostatic carcinomas