Search for a gene
AR - androgen receptor
- Synonym(s) : AIS, HUMARA, Kennedy disease, NR3C4, SMAX1, testicular feminization
- Previous symbols and names : DHTR, SBMA, dihydrotestosterone receptor, spinal and bulbar muscular atrophy
- Type : gene with protein product
- Chromosomal location : Xq12
- OMIM: 313700
- HGNC: 644
- UniProtKB: P10275
- Genatlas: AR
- GenCC: AR
- Ensembl: ENSG00000169083
- IUPHAR-DB: 628
- Reactome: P10275
- LOVD: AR
Diseases list
- Disease-causing germline mutation(s) in Complete androgen insensitivity syndrome
ORPHA:99429 
- Disease-causing germline mutation(s) in Kennedy disease
ORPHA:481 - Disease-causing germline mutation(s) in Partial androgen insensitivity syndrome
ORPHA:90797 - Candidate gene tested in Non-syndromic posterior hypospadias
ORPHA:95706
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.
Orphanet is part of the Gene Curation Coalition, a global effort to harmonise gene-level resources.