The NR5A1 gene provides instructions for producing a transcription factor called the steroidogenic factor 1. A transcription factor is a protein that attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Steroidogenic factor 1 helps control the activity of several genes related to the development of the gonads (ovaries and testes) and the adrenal glands, which are small glands located on top of each kidney. The adrenal glands produce several hormones that regulate many essential functions in the body.
Other Names
AD4BP; adrenal 4 binding protein; ELP; FTZ1; FTZF1; fushi tarazu factor homolog 1; hSF-1; nuclear receptor AdBP4; nuclear receptor subfamily 5, group A, member 1; SF-1; SF1; steroid hormone receptor Ad4BP; steroidogenic factor 1; STF1_HUMAN
Related Genetics Topics
- 46,XX testicular disorder of sex development — MedlinePlus Genetics
- Swyer syndrome — MedlinePlus Genetics
Identifiers
- NCBI Gene: 2516
- OMIM: 184757
- OMIM: 612964
- OMIM: 613957
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
