[5] This protein is encoded by the NR5A1 gene, a member of the nuclear receptor subfamily, located on the long arm of chromosome 9 at position 33.3.

It was originally identified as a regulator of genes encoding cytochrome P450 steroid hydroxylases, however, further roles in endocrine function have since been discovered.

[6] The NR5A1 gene encodes a 461-amino acid protein that shares several conserved domains consistent with members of the nuclear receptor subfamily.

[6] The N-terminal domain includes two zinc fingers and is responsible for DNA binding via specific recognition of target sequences.

The hinge region can undergo post-transcriptional and translational modifications such as phosphorylation by cAMP-dependent kinase, that further enhance stability and transcriptional activity.

SRY influences the differentiation of the fetal testes into distinct compartments: testicular cords and interstitial region containing Leydig cells.

Embryonic mouse SF-1 transcripts have been discovered to localize within regions of the developing diencephalon and subsequently in the ventromedial hypothalamic nucleus (VMH) suggesting roles beyond steroidogenic maintenance.

[15] SF-1 has been identified as a transcriptional regulator for an array of different genes related to sex determination and differentiation, reproduction, and metabolism via binding to their promoters.

[6] The Müllerian inhibiting substance (MIS or AMH) gene within Sertoli cells contains a conserved motif identical to the optimal binding sequence for SF-1.

Observed morphological changes and DNA fragmentation was consistent with apoptosis and structural regression resulting in the death of all mice within 8 days after birth.

[18] Sf-1 function was determined to be necessary for development of primary steroidogenic tissue as evidenced by complete lack of adrenal and gonadal glands in the knockout.

This p.G35E change may have a mild competitive or dominant negative effect on transactivation resulting in severe gonadal defects and adrenal dysfunction.

[20] This change requires mutations to both allele to display phenotypic effects as heterozygous carriers showed normal adrenal function.

Males, despite having 46, XY karyotype, develop female external genitalia, as well as uterus and fallopian tubes, along with gonadal defects rendering them nonfunctional.

[22] NR5A1 mutations have also been linked to partial gonadal dysgenesis, whereby affected individuals have ambiguous genitalia, urogenital sinus, absent or rudimentary Müllerian structures, and other abnormalities.