TGM1
Function
Catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. Responsible for cross-linking epidermal proteins during formation of the stratum corneum. Involved in cell proliferation (PubMed:26220141).
Involvement in disease
Ichthyosis, congenital, autosomal recessive 1
ARCI1
A form of autosomal recessive congenital ichthyosis, a disorder of keratinization with abnormal differentiation and desquamation of the epidermis, resulting in abnormal skin scaling over the whole body. The main skin phenotypes are lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE), although phenotypic overlap within the same patient or among patients from the same family can occur. Lamellar ichthyosis is a condition often associated with an embedment in a collodion-like membrane at birth; skin scales later develop, covering the entire body surface. Non-bullous congenital ichthyosiform erythroderma characterized by fine whitish scaling on an erythrodermal background; larger brownish scales are present on the buttocks, neck and legs.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Palmitoylated.
The membrane anchorage region possesses a cluster of five cysteines within which fatty acid(s) may become thioester-linked. It is subject to phorbol ester-stimulated phosphorylation and is hypersensitive to proteolysis, which releases the enzyme in a soluble form.
Tyrosine-phosphorylated.
Sequence Similarities
Belongs to the transglutaminase superfamily. Transglutaminase family.
Cellular localization
- Membrane
- Lipid-anchor
Alternative names
KTG, TGM1, Protein-glutamine gamma-glutamyltransferase K, Epidermal TGase, Transglutaminase K, Transglutaminase-1, TG(K), TGK, TGase K, TGase-1