Nr5a1

NR5A1, also known as Steroidogenic Factor 1 (SF-1), is a nuclear receptor protein encoded by the NR5A1 gene in humans. This gene is located on chromosome 9. NR5A1 plays a critical role in the development and function of the adrenal glands and gonads. It is a transcription factor that regulates the expression of a wide array of genes involved in steroidogenesis, the production of steroid hormones like cortisol, aldosterone, and sex steroids.

The NR5A1 protein is essential for the differentiation of the fetal adrenal cortex and the maintenance of adult adrenal and gonadal function. It is expressed in various tissues, including the adrenal cortex, gonads, hypothalamus, and pituitary gland. Its activity is regulated by phosphorylation and interaction with other co-activators and co-repressors. Mutations in the NR5A1 gene can lead to severe developmental abnormalities. In humans, these mutations have been associated with a spectrum of conditions, including adrenal insufficiency, disorders of sex development (DSDs) such as ovotesticular DSD, and gonadal dysgenesis. Research continues to explore the broader functions of NR5A1 in other physiological processes.