Over expression of this gene is associated with the grade of the malignancy and proliferative activity in gliomas and melanomas.[7] An increased expression of MSI1 protein is observed in endometriosis and endometrial carcinoma[8] siRNA-mediated inhibition of MSI expression in endometrial carcinoma cells induces apoptosis and inhibits cell proliferation by affecting the Notch signaling pathway[9]
MSI1 is highly expressed in neural progenitor cells and is required for normal development of the brain. A mutation in these gene is responsible for autosomal recessive primary microcephaly. MSI1 also interacts with the Zika virus genome and may explain why these cells are highly susceptible to Zika virus infection.[10][11]
