9.B.416. The Chorcin or VPS13A (Chorcin) Family
Chorcin of Homo sapiens is a 3,174 aas protein, possibly with two centrally located TMSs. It is required for the formation or stabilization of ER-mitochondria contact sites which enable transfer of lipids between the ER and mitochondria (Yeshaw et al. 2019). It negatively regulates lipid droplet size and motility (Yeshaw et al. 2019) and is required for efficient lysosomal protein degradation (Muñoz-Braceras et al. 2019). Decreased Na+/K+ ATPase expression and a depolarized cell membrane is observed for neurons differentiated from Chorea-Acanthocytosis Patients (Hosseinzadeh et al. 2020).