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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).


References associated with 9.B.416 family:

Hosseinzadeh, Z., S. Hauser, Y. Singh, L. Pelzl, S. Schuster, Y. Sharma, P. Höflinger, N. Zacharopoulou, C. Stournaras, D.L. Rathbun, E. Zrenner, L. Schöls, and F. Lang. (2020). Decreased Na/K ATPase Expression and Depolarized Cell Membrane in Neuron.s Differentiated from Chorea-Acanthocytosis Patients. Sci Rep 10: 8391. 32439941
Muñoz-Braceras, S., A.R. Tornero-Écija, O. Vincent, and R. Escalante. (2019). VPS13A is closely associated with mitochondria and is required for efficient lysosomal degradation. Dis Model Mech 12:. 30709847
Yeshaw, W.M., M. van der Zwaag, F. Pinto, L.L. Lahaye, A.I. Faber, R. Gómez-Sánchez, A.M. Dolga, C. Poland, A.P. Monaco, S.C. van IJzendoorn, N.A. Grzeschik, A. Velayos-Baeza, and O.C. Sibon. (2019). Human VPS13A is associated with multiple organelles and influences mitochondrial morphology and lipid droplet motility. Elife 8:. 30741634