TGM6

TGM6 or Transglutaminase 6 is a protein that in humans is encoded by the TGM6 gene. It is a member of the transglutaminase family, which are enzymes that catalyze the crosslinking of proteins by epsilon-([gamma]-glutamyl)lysine isopeptide bonds.

Function

TGM6 is predominantly expressed in the brain and may play a role in neurological disorders. It catalyzes the crosslinking of proteins and the conjugation of polyamines to proteins, which could be relevant to the pathogenesis of certain neurological diseases.

Clinical significance

Mutations in the TGM6 gene have been associated with spinocerebellar ataxia type 35 (SCA35), a neurodegenerative disorder characterized by progressive motor dysfunction and loss of coordination.

Structure

The TGM6 protein is composed of 706 amino acids and has a molecular weight of approximately 79 kDa. It contains a transglutaminase core domain, which is responsible for its enzymatic activity.

See also

• Transglutaminase
• Spinocerebellar ataxia

External links

• GeneCards - TGM6