Msmo1, also known as SC4MOL, encodes methylsterol monooxygenase 1, which catalyzes C4-methylsterols demethylation in the cholesterol biosynthesis pathway. Cholesterol synthesis is a crucial process, and Msmo1's role in it is significant, with implications for various biological functions and disease states [1,3].

In pancreatic cancer, down-regulation of Msmo1 promotes cell invasion, migration via activating EMT and PI3K-AKT-mTOR pathway, enhancing tumor growth in vivo, indicating its role as a tumor suppressor [2]. In cervical cancer, up-regulation of Msmo1 is associated with poor survival, being an independent risk factor for overall survival, disease-specific survival, and progression-free survival [3]. In Msmo1 deficiency, an autosomal recessive disorder, missense variants in the Msmo1 gene lead to methylsterol accumulation, causing growth and developmental delay, along with other symptoms. Treatment with cholesterol supplements and statins can improve the condition [1].

In conclusion, Msmo1 plays a vital role in cholesterol biosynthesis. Its dysregulation is linked to multiple diseases such as pancreatic and cervical cancer, as well as Msmo1 deficiency disorder. Studies on Msmo1 in these disease models help in understanding the underlying molecular mechanisms and potentially developing targeted therapies.