Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.

Alterations of Ca homeostasis have been implicated in a wide range of neurodegenerative diseases. Ca efflux from the endoplasmic reticulum into the cytoplasm is controlled by binding of inositol 1,4,5-trisphosphate to its receptor. Activated inositol 1,4,5-trisphosphate receptors are then rapidly degraded by the endoplasmic reticulum-associated degradation pathway.