Search for a gene
NR5A1 - nuclear receptor subfamily 5 group A member 1
- Synonym(s) : AD4BP, ELP, FTZ1, hSF-1, SF1, SF-1, steroidogenic factor 1
- Previous symbols and names : FTZF1, nuclear receptor subfamily 5, group A, member 1
- Type : gene with protein product
- Chromosomal location : 9q33.3
- OMIM: 184757
- HGNC: 7983
- UniProtKB: Q13285
- Genatlas: NR5A1
- GenCC: NR5A1
- Ensembl: ENSG00000136931
- IUPHAR-DB: 632
- Reactome: Q13285
- LOVD: NR5A1
Diseases list
- Disease-causing germline mutation(s) in 46,XX gonadal dysgenesis
ORPHA:243 - Disease-causing germline mutation(s) in 46,XY complete gonadal dysgenesis
ORPHA:242 - Disease-causing germline mutation(s) in 46,XY partial gonadal dysgenesis
ORPHA:251510 - Disease-causing germline mutation(s) in Male infertility with azoospermia or oligozoospermia due to single gene mutation
ORPHA:399805 - Disease-causing germline mutation(s) (loss of function) in 46,XX ovotesticular disorder of sex development
ORPHA:2138 - Disease-causing germline mutation(s) (loss of function) in 46,XX testicular disorder of sex development
ORPHA:393 - Disease-causing germline mutation(s) (loss of function) in NON RARE IN EUROPE: Primary ovarian failure
ORPHA:619

Additional 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.