Several variants in the ANO10 gene have been reported since 2010, most of which are listed in an online database called ClinVar. Characterization of these variants regarding their effect on the gene function classified them into pathogenic, likely pathogenic, non-pathogenic, benign and of unknown significance. Currently, this database includes 30 variants classified as pathogenic, 20 as likely pathogenic and many others classified as benign or of uncertain significance.
The ANO10 gene is highly expressed in adult brains and moderately expressed in the retina and heart. It was also observed that the gene has higher expression in the human adults’ brain than in foetuses, thus suggesting a possible specific role in the adult mature brain. Based on additional expression studies during mouse cephalic development a possible role of this gene in brain development was also suggested.
The functional molecule of this gene is known as the ANO10 protein. The function of this molecule in the cells has not been fully determined yet. It seems that under specific circumstances acts as a channel at the cell membrane that allows the movement of certain substances across the cell membrane. It also acts as a channel for ions (charged particles). Studies also suggest that it is also possibly involved in lipids distribution and in one of the mechanisms regulating the degradation or recycling of molecules that need to be discarded from the cell.
ANO10