Steroidogenic factor 1

Steroidogenic factor 1 (SF-1), also known as Adrenal 4 binding protein (Ad4BP), is a protein that in humans is encoded by the NR5A1 gene. SF-1 is a member of the nuclear receptor family of intracellular transcription factors and is involved in the regulation of several steroid-producing genes.

Function

SF-1 is a key regulator of reproduction and steroidogenesis, controlling the expression of several genes involved in sexual differentiation and reproduction. It is essential for the development of the gonads, adrenal glands, and hypothalamus and pituitary glands. SF-1 also regulates the production of steroid hormones such as cortisol, aldosterone, and sex steroids.

Structure

The SF-1 protein contains a DNA-binding domain and a ligand-binding domain, typical of nuclear receptors. The DNA-binding domain allows SF-1 to bind to specific sequences of DNA, while the ligand-binding domain allows it to interact with other proteins and hormones.

Clinical significance

Mutations in the NR5A1 gene can lead to a variety of disorders, including 46,XY disorder of sex development and adrenal insufficiency. These conditions can result in abnormal sexual development and impaired steroid hormone production.

Research

Research into SF-1 has provided insights into the regulation of steroid hormone production and the development of the reproductive system. It has also led to the development of potential therapeutic targets for disorders of sex development and adrenal insufficiency.

See also

• Nuclear receptor
• Steroidogenesis
• Adrenal gland
• Gonad