TGM6
Function
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
Involvement in disease
Spinocerebellar ataxia 35
SCA35
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA35 patients commonly show upper limb involvement and torticollis. There is no cognitive impairment.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the transglutaminase superfamily. Transglutaminase family.
Cellular localization
- Cytoplasm
Alternative names
TGM3L, TGM6, Protein-glutamine gamma-glutamyltransferase 6, Transglutaminase Y, Transglutaminase-3-like, Transglutaminase-6, TGY, TGase Y, TGase-3-like, TG6, TGase-6