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FLASH GENE

Symbol

AR

contributors: mct/npt/pgu - updated : 27-06-2019

HGNC name	androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
HGNC id	644

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AIS , SBMA

related resource

Androgen receptor

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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

Susceptibility

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
Marker
Therapy target
	System Type Disorder Pubmed cancer reproductive prostate modulation of ELF3 expression and/or AR/ELF3 interaction may have utility in the treatment of prostate carcinoma cancer reproductive prostate . 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

ANIMAL & CELL MODELS

transgenic mice developing many of the motor sympltoms of SBMA