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The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains:the N-terminal domain, DNA-binding domain, and androgen-binding domain. The protein functions as asteroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates fromaccessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgenresponsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine andpolyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tractcauses spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with completeandrogen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.(provided by RefSeq, Jul 2008)The androgen receptor gene is more than 90 kb long and codes for a protein that has 3 major functional domains:the N-terminal domain, DNA-binding domain, and androgen-binding domain
The protein functions as asteroid-hormone activated transcription factor. Upon binding the hormone ligand, the receptor dissociates fromaccessory proteins, translocates into the nucleus, dimerizes, and then stimulates transcription of androgenresponsive genes. This gene contains 2 polymorphic trinucleotide repeat segments that encode polyglutamine andpolyglycine tracts in the N-terminal transactivation domain of its protein. Expansion of the polyglutamine tractcauses spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with completeandrogen insensitivity (CAIS). Two alternatively spliced variants encoding distinct isoforms have been described.(provided by RefSeq, Jul 2008)
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