Steroidogenic factor 1

The steroidogenic factor 1 (SF1) is_associated_with::protein controls sexual development in the embryo and at puberty.

SF1 is a member of the is_associated_with::nuclear receptor family of is_associated_with::intracellular is_associated_with::transcription factors and is encoded by the NR5A1 is_associated_with::gene (nuclear receptor subfamily 5, group A, member 1).

Function
SF-1 is a critical regulator of reproduction, regulating the transcription of key genes involved in sexual development and reproduction, most notably StAR and P450SCC. It can form a transcriptional complex with TDF to up-regulate transcription of the is_associated_with::Sox9 gene. Its targets include is_associated_with::genes at every level of the is_associated_with::hypothalamic-pituitary-gonadal axis, as well as many genes involved in is_associated_with::gonadal and is_associated_with::adrenal is_associated_with::steroidogenesis.

Clinical significance
Mutations in NR5A1 can produce intersex genitals, absence of puberty, and infertility. It is one cause of arrest of ovarian function in women <40 years of age, which occurs in 1% of all women.

Missense, in-frame and is_associated_with::frameshift mutations of NR5A1 have been found in families with 46,XY disorders of sex development, 46,XX is_associated_with::gonadal dysgenesis and 46,XX primary ovarian insufficiency. 46,XY individuals may have ambiguous or female genitals. Individuals of either is_associated_with::karyotype may not enter puberty, although expression of the is_associated_with::phenotype, is_associated_with::penetrance, fertility, and modes of inheritance can vary. Some mutations are dominant, some are recessive.

Interactions
Steroidogenic factor 1 has been shown to interact with:
 * is_associated_with::Beta-catenin
 * is_associated_with::DAX1
 * is_associated_with::NRIP1
 * is_associated_with::SOX9
 * is_associated_with::TRERF1.