Torsin 4A (TOR4A)

C9orf167 Belongs to the clpA/clpB family. Torsin subfamily. Torsin A, a molecular chaperone-like protein, is localized to the endoplasmic reticulum (ER) where it functions to maintain proper folding and processing of proteins and helps prevent misfolding, ER stress, and protein accumulation associated with neurodegenerative disorders in the brain. Abnormal torsinA protein resulting from a mutation in the DYT-1 gene was discovered within the past decade to represent an underlying cause of Early Onset Torsion Dystonia (EOTD). Furthermore, torsinA has been shown to be a potent suppressor of alpha-synuclein aggregation in neuronal cells and is co-localized with alpha-synuclein protein aggregates (Lewy Bodies) in postmortem brains of patients with Parkinson’s Disease (PD).