Androgen Receptor (AR)

AIS; DHTR; HUMARA; KD; NR3C4; SBMA; SMAX1; TFM; Dihydrotestosterone receptor; Nuclear Receptor Subfamily 3,Group C,Member 4; Testicular Feminization; Kennedy Disease

SPN	V575
HGNC	644
MGI	88064
PubMed	15082523
RGD	2147
UniProt	P10275
Wiki	AR

The androgen receptor (AR) 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 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-terminal transactivation domain of its protein. Expansion of the polyglutamine tract causes spinal bulbar muscular atrophy (Kennedy disease). Mutations in this gene are also associated with complete androgen insensitivity (CAIS).

Reference

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Erratum
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Erratum
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"A single amino acid substitution (Met-786-->Val) in the steroid-binding domain of human androgen receptor leads to complete androgen insensitivity syndrome."
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"Mutations in the ligand-binding domain of the androgen receptor gene cluster in two regions of the gene."
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"The androgen receptor in LNCaP cells contains a mutation in the ligand binding domain which affects steroid binding characteristics and response to antiandrogens."
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"Amino acid substitutions in the DNA-binding domain of the human androgen receptor are a frequent cause of receptor-binding positive androgen resistance."
Mol. Endocrinol. 6:409-415(1992) [PubMed] [Europe PMC] [Abstract]

"Single base mutations in the human androgen receptor gene causing complete androgen insensitivity: rapid detection by a modified denaturing gradient gel electrophoresis technique."
Mol. Endocrinol. 6:1909-1920(1992) [PubMed] [Europe PMC] [Abstract]

"A germline mutation in the androgen receptor gene in two brothers with breast cancer and Reifenstein syndrome."
Nat. Genet. 2:132-134(1992) [PubMed] [Europe PMC] [Abstract]

"Androgen receptor gene mutations in human prostate cancer."
Proc. Natl. Acad. Sci. U.S.A. 89:6319-6323(1992) [PubMed] [Europe PMC] [Abstract]

"Sequence variation in the androgen receptor gene is not a common determinant of male sexual orientation."
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Hum. Mol. Genet. 2:1799-1802(1993) [PubMed] [Europe PMC] [Abstract]

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Hum. Mol. Genet. 2:1809-1812(1993) [PubMed] [Europe PMC] [Abstract]

"A single amino acid substitution (Gly743 --> Val) in the steroid-binding domain of the human androgen receptor leads to Reifenstein syndrome."
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"Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: application for diagnosis, genetic counseling, and therapy."
J. Clin. Endocrinol. Metab. 77:262-266(1993) [PubMed] [Europe PMC] [Abstract]

"Mutations of the androgen receptor gene identified in perineal hypospadias."
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"Mutant androgen receptor detected in an advanced-stage prostatic carcinoma is activated by adrenal androgens and progesterone."
Mol. Endocrinol. 7:1541-1550(1993) [PubMed] [Europe PMC] [Abstract]

"Androgen receptor (AR) gene mutations in 6 families with androgen insensitivity syndrome (Abstract #114)."
Pediatr. Res. Suppl. 33:S22-S22(1993)

"Androgen receptor gene mutations and p53 gene analysis in advanced prostate cancer."
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"Microsatellite mutation (CAG24-->18) in the androgen receptor gene in human prostate cancer."
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Cancer Res. 54:2861-2864(1994) [PubMed] [Europe PMC] [Abstract]

"Molecular prenatal diagnosis of partial androgen insensitivity syndrome based on the Hind III polymorphism of the androgen receptor gene."
Clin. Endocrinol. (Oxf.) 40:297-302(1994) [PubMed] [Europe PMC] [Abstract]

"Molecular prenatal exclusion of familial partial androgen insensitivity (Reifenstein syndrome)."
Eur. J. Endocrinol. 130:327-332(1994) [PubMed] [Europe PMC] [Abstract]

"Single amino acid substitution (840Arg-->His) in the hormone-binding domain of the androgen receptor leads to incomplete androgen insensitivity syndrome associated with a thermolabile androgen receptor."
Eur. J. Endocrinol. 130:569-574(1994) [PubMed] [Europe PMC] [Abstract]

"Molecular characterization of the androgen receptor gene in boys with hypospadias."
Eur. J. Pediatr.