May play a role in the control of protein cycling through the trans-Golgi network to early and late endosomes, lysosomes and plasma membrane. Defects in VPS13A are the cause of chorea-acanthocytosis (CHAC); also known as Levine-Critchley syndrome. CHAC is an autosomal recessive neurodegenerative disorder characterized by the gradual onset of hyperkinetic movements and abnormal erythrocyte morphology. Basal ganglia atrophy in the brain is a pathological feature of the disease. Other clinical symptoms include psychiatric features, epilepsy, peripheral neuropathy, myopathy and oral self-mutilation. Belongs to the VPS13 family. 4 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Alt. Names/Synonyms: CHAC; Chorea-acanthocytosis protein; Chorein; FLJ42030; KIAA0986; vacuolar protein sorting 13 homolog A (S. cerevisiae); vacuolar protein sorting 13A; Vacuolar protein sorting-associated protein 13A; VP13A; VPS13A