DefinitionThis section has been translated automatically.
TGM6 (transglutaminase 6) is a protein-coding gene located on chromosome 20p13. Diseases associated with TGM6 include Spinocerebellar Ataxia 35 and Acute Myeloid Leukemia.
General informationThis section has been translated automatically.
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.
Transglutaminase 6 (TG6) expression is localized in human testis and lung and mouse brain. Human carcinoma cells with neuronal features also express TG6. In addition to the full-length protein, alternative splicing gives rise to a short variant that lacks the second β-barrel domain. The catalytic function of TG6 is activated after proteolytic cleavage of the proenzyme; thus, TG6 consists of two polypeptide chains cleaved from a single precursor. TG6 knockout mice have not yet been generated.
LiteratureThis section has been translated automatically.
- Sato K et al. (2017) Gluten ataxia: anti-transglutaminase-6 antibody as a new biomarker. Brain Nerve 69:933-940.
