AR

The androgen receptor (AR; NR3C4) is an intracellular steroid receptor with an N-terminal transcriptional activation domain containing a polymorphic polyglutamine tract, a zinc-finger DNA-binding domain and a C-terminal ligand-binding domain. Full-length AR recognizes androgens, moves between cytosolic and nuclear pools, binds regulatory DNA and recruits context-dependent coactivators or corepressors to control transcription. It supports male sexual differentiation, reproductive function and tissue-specific androgen responses. Alternative products, including AR-V7, can alter ligand dependence and transcriptional behavior. The disordered activation domain supports molecular condensation as one mode of receptor assembly. Loss-of-function variants cause androgen insensitivity, whereas expansion of the CAG-encoded polyglutamine tract causes spinal and bulbar muscular atrophy. Dysregulated AR signaling, including altered abundance, ligand responses and splice products, contributes to prostate cancer progression.

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.