The Androgen Receptor and associated syndromes in the OMIM® - Online Catalog of Human Genes and Genetic Disorders

The gene encoding androgen receptor (AR), alternatively known as the dihydrotestosterone receptor, is located on the X chromosome.

It is mutant in the androgen insensitivity syndrome (AIS; 300068), formerly known as the testicular feminization syndrome (TFM), and in Kennedy spinal and bulbar muscular atrophy (SBMA; 313200). Clinical variants of the androgen insensitivity syndrome (partial androgen insensitivity) include the Reifenstein syndrome (312300).

The AR protein belongs to the class of nuclear receptors called activated class I steroid receptors, which also includes glucocorticoid receptor (GCCR; 138040), progesterone receptor (PGR; 607311), and mineralocorticoid receptor (NR3C2; 600983).

These receptors recognize canonical androgen response elements (AREs), which are inverted repeats of 5-prime-TGTTCT-3-prime. The major domains of AR include N- and C-terminal activation domains, which are designated activation function-1 (AF-1) and AF-2, a ligand-binding domain, and a polyglutamine tract (Callewaert et al., 2003).