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Symbol AR contributors: mct/npt/pgu - updated : 27-06-2017
HGNC name androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
HGNC id 644
corresponding disease(s) AIS , SBMA
related resource Androgen receptor
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
tumoral   amplification    
in prostate and breast cancers
tumoral     --over  
of both AR and ZNF652 in clinically organ-defined prostate cancer are associated with a statistically increased risk of relapse (Pubmed 20204290)
constitutional     --over  
in patients with severe hypospadias
  • to prostate cancer and uterine endometrial carcinoma with expansion of CAG repeat
  • early-onset androgenetic alopecia(AGA)
  • to Polycystic Ovary Syndrome (PCOS)
  • to postmenopausal breast cancer risk
  • to idiopathic male infertility
  • to isolated hypospadias
  • Variant & Polymorphism repeat , other
  • expansion of polyglutamine tract causes SBMA (Kennedy disease)
  • a smaller size of the polyGLN region may be associated with the development of prostate cancers or with PCOS
  • GGN repeats variation increasing the risk of AGA
  • variants may modify hormone therapy associated postmenopausal breast cancer risk
  • association between increased androgen receptor CAG length and idiopathic male infertility, suggesting that even subtle disruptions in the androgen axis may compromise male fertility
  • boys with isolated hypospadias have longer CAG alleles in AR, which may be related with the development of this congenital malformation
  • Candidate gene
    Therapy target
    modulation of ELF3 expression and/or AR/ELF3 interaction may have utility in the treatment of prostate carcinoma
    . ideal therapeutic approach(es) could be to target the proliferative function or suppressive function of AR separately, which could be achieved by development of specific vehicles that carry androgens only to those prostate cells with AR suppressive func
    transgenic mice developing many of the motor sympltoms of SBMA