TGM5
Function
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Contributes to the formation of the cornified cell envelope of keratinocytes.
Involvement in disease
Peeling skin syndrome 2
PSS2
A non-inflammatory and localized form of peeling skin syndrome, a genodermatosis characterized by the continuous shedding of the outer layers of the epidermis. In PSS2 patients, skin peeling is painless and strictly limited to the dorsa of the hands and feet. It is accompanied by painless erythema and spontaneous non-scarring healing. Ultrastructural and histological analysis shows a level of blistering high in the epidermis at the stratum granulosum-stratum corneum junction.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the transglutaminase superfamily. Transglutaminase family.
Tissue Specificity
Expressed in foreskin keratinocytes.
Cellular localization
- Cytoplasm
- Associated with intermediate filaments.
Alternative names
TGMX, TGM5, Protein-glutamine gamma-glutamyltransferase 5, Transglutaminase X, Transglutaminase-5, TG(X), TGX, TGase X, TGase-5