TTBK2 and aceruloplasminemia: Nevertheless, only a few functions have been described in detail, and many aspects of TTBK2 biological rolesare not fully characterized.Pathogenic variants in TTBK2 gene have been linked to spinocerebellar ataxia type 11 (SCA11), an autosomal dominant disease with adult onset, mainly characterized by slowly progressive cerebellar ataxia.