chorein

Chorein is the protein product of the VPS13A gene in humans. It is a very large cytosolic protein belonging to the VPS13 family, and it is implicated in intracellular lipid transport and membrane trafficking. In cells, chorein localizes to membrane contact sites involving the endoplasmic reticulum, endosomes, and lysosomes, where it is believed to facilitate lipid transfer and membrane remodeling, though the precise molecular mechanisms are still under investigation.

Mutations in VPS13A, which encodes chorein, cause chorea-acanthocytosis, a rare autosomal recessive neurodegenerative disorder. The condition is characterized by movement abnormalities such as chorea and dystonia, progressive motor and cognitive decline, psychiatric symptoms, and other neurological features. A hallmark of the disorder is the presence of acanthocytes—spiculated red blood cells—on peripheral blood smear. Onset typically occurs in adulthood but can vary.

Diagnosis is based on clinical presentation, neuroimaging findings, and confirmation of VPS13A mutations through genetic testing. Neuroimaging may reveal atrophy or dysfunction in the basal ganglia regions, particularly the caudate nucleus and putamen. There is no cure for chorea-acanthocytosis; management is supportive and multidisciplinary, focusing on symptom control, physical and occupational therapy, speech therapy, and management of complications.

Research continues to define chorein’s exact role in lipid transport and organelle communication, and to develop targeted therapies. Chorein is also studied as part of broader investigations into neuroacanthocytosis syndromes and intracellular trafficking pathways.