Cyp11a1, encoding the P450scc enzyme, catalyzes the first and rate-limiting step of steroid biosynthesis, converting cholesterol to pregnenolone [2]. This process is part of the steroidogenesis pathway, and Cyp11a1 is expressed in the adrenals, gonads, and other tissues like the placenta and skin under the control of pituitary peptide hormones and through the cAMP-signaling pathway [2,3]. Transcription factor SF-1, binding to the CYP11A1 promoter, is crucial for its tissue-specific and hormonally regulated expression [2,3]. Animal models, such as transgenic and knockout mice, and zebrafish, are valuable for understanding its gene regulatory pathways [2,4].

In polycystic ovary syndrome (PCOS), artemisinins promote Cyp11a1 protein degradation by enhancing the LONP1-Cyp11a1 interaction, blocking androgen overproduction and alleviating PCOS symptoms [1]. In zebrafish, cyp11a1 is expressed in the gonads, interrenal glands, blastomeres of early embryos, and yolk syncytial layer, suggesting a role of steroids during gastrulation [4]. Targeted mutagenesis of Cyp11a1 in mice reveals its importance in steroid secretion, gene regulation, and genitalia development [2].

In conclusion, Cyp11a1 is essential for steroid biosynthesis, playing a significant role in processes like PCOS and embryonic development as demonstrated by gene-targeted mouse models. Its study through these models provides insights into diseases related to steroid imbalance, highlighting its potential as a therapeutic target for conditions such as PCOS.