TGM6

Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene.

Function and Clinical Significance

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. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. .
Mutations in TGM6 cause acute myeloid leukaemia. The presence of antibodies against TG6 is statistically related to gluten ataxia, amongst other conditions.