AR
LOCUS ID367
GENE_SYMBOLAR
GENE NAMEandrogen receptor
SYNONYMNSKD, AIS, AR8, TFM, DHTR, SBMA, HYSP1, NR3C4, SMAX1, HUMARA
CHROMOSOMEX
HOMOLOGENE ID28
microRNAsNANA
GENE SUMMARY
The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functiol domainsthe N-termil domain, D-binding domain, and androgen-binding domain. The protein functions as a steroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates from accessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgen responsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine and polyglycine tracts in the N-termil transactivation domain of its protein. Expansion of the polyglutamine tract causes spil bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS). Two altertively spliced variants encoding distinct isoforms have been described. [provided by RefSeq, Jul 2008]

OBSERVATIONS

Complication Evidence PMID
Nephropathy1. The C-106T polymorphism in the AR gene is a risk factor for development of diabetic nephropathy in type 2 diabetes in patients with poor glycaemic control.15637423