TGM6

From WikiMD's Wellness Encyclopedia

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

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[edit | edit source]

References[edit | edit source]


External links[edit | edit source]

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Contributors: Prab R. Tumpati, MD