The protein encoded by this gene belongs to the transglutaminase superfamily. It catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Mutations in this gene are associated with spinocerebellar ataxia type 35 (SCA35). Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011].
Mutations in TGM6 cause acute myeloid leukaemia.[6] The presence of antibodies against TG6 is statistically related to gluten ataxia, amongst other conditions.
