Ano10-KO Mouse

Ano10, also known as TMEM16K, is a transmembrane protein belonging to the anoctamin family, characterized by functional duality with ion channel and phospholipid scrambling activities. It's involved in multiple physiological processes such as endosomal sorting, spindle assembly, calcium signalling, and is crucial for cell division, migration, apoptosis, and cell signalling [1]. Dysregulation of calcium signalling in Purkinje cells due to ANO10 defects is proposed as the main mechanism leading to spinocerebellar ataxia autosomal recessive type 10 (SCAR10) [1].

In Ano10 knockout epithelial cells, there are defective ion transport, attenuated volume regulation, and deranged Ca2+ signalling. Intestinal epithelial cells from Ano10 null mice are reduced in size and show almost abolished spontaneous and TNFα-induced apoptosis. Similar defects are found in mouse peritoneal Ano10 null macrophages and human THP1 macrophages with reduced ANO10 expression, suggesting that Ano10 mutations cause cellular defects and genetic disorders through deranged local Ca2+ signalling [2].

In conclusion, Ano10 plays essential roles in multiple cellular processes including calcium signalling and cell apoptosis. The study of Ano10 knockout models has revealed its significant contribution to understanding the pathogenesis of SCAR10, highlighting its importance in related neurological disease research.