Description
The abstract notes ACBD6 lacks peroxisomal localization unlike ACBD5, yet both are acyl-CoA binding proteins. The specific reason why ACBD6 deficiency uniquely causes dystonia and progressive movement disorders remains unexplained and could reveal critical pathways.
Gap type: unexplained_observation Source paper: Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. (2024, Brain : a journal of neurology, PMID:37951597)