background:
Terminally differentiating mammalian epidermal cells acquire an insoluble, 10 to 20 nm thick protein deposit on the intracellular surface of the plasma membrane, known as the cross-linked cell envelope (CE). The CE is a component of the epidermis that is generated through the formation of disulfide bonds and gamma-glutamyl-lysine isodipeptide bonds, which are formed by the action of transglutaminases (TGases). TGases are Ca2+-dependent enzymes, which catalyze the formation of isopeptide bonds by transferring an amine to a glutaminyl residue, thereby cross-linking glutamine residues and lysine residues in substrate proteins. TGases influence numerous biological processes, including blood coagulation, epidermal differentiation, seminal fluid coagulation, fertilization, cell differentiation and apoptosis. TGase6 (transglutaminase 6), also known as TGM6, TGY or TGM3L, is a 706 amino acid protein that catalyzes the cross-linking of proteins and the conjugation of proteins to polyamines. As a result of alternative splicing, two TGase6 isoforms exist.
Function:
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins.
DISEASE:
Defects in TGM6 are the cause of spinocerebellar ataxia type 35 (SCA35) [MIM:613908]. 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.
Similarity:
Belongs to the transglutaminase superfamily. Transglutaminase family.
Database links:
Entrez Gene: 343641 Human
Entrez Gene: 241636 Mouse
Entrez Gene: 296152 Rat
Omim: 613900 Human
SwissProt: O95932 Human
Unigene: 452039 Human
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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