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Transglutaminase 1 (TGM1)

Target: TGM1
Molecular classification: Enzyme, Protein-glutamine gamma-glutamyltransferase

Overview

Transglutaminase 1 (TGM1) is an enzyme primarily found in the epidermis. It catalyzes the formation of strong covalent cross-links between structural proteins, creating the cornified cell envelope, a tough barrier that protects against chemical and physical damage and prevents water loss. Mutations in TGM1 cause autosomal recessive congenital ichthyosis (ARCI), particularly lamellar ichthyosis.

Other names: Keratinocyte transglutaminaseProtein-glutamine gamma-glutamyltransferase KARCI1ICR2KTGLILI1TGASETGK

Biological functions

Epidermal barrier formationCross-linking of structural proteinsCornified envelope assembly

Disease associations

Autosomal recessive congenital ichthyosis (ARCI)Lamellar ichthyosis

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