Transglutaminase 1 gene is mapped on chromosome 14q11.2 that contains 15 exons and 14 introns codes for a membrane protein, transglutaminase 1 (also called protein-glutamine gamma-glutamyltransferase K). This membrane protein catalyzes the addition of an alkyl group from an akylamine to a glutamine residue. This protein alkylation is essential for the proper cross-linking of proteins and catenation of polyamines to proteins.
Transglutaminase 1 is present in a cell that serves as a framework of the outermost of the skin. Multiple proteins are linked to one another (crosslinking).
In humans, mutation in transglutaminase 1 gene is associated with lamellar ichthyosis. A defective transglutaminase 1 gene would affect the production of transglutaminase 1 protein. Insufficient production of this protein could lead to lamellar ichthyosis type 1. It is a genetic disorder characterized by the presence of collodion membrane at birth, plate-likescale formation as the child ages, and alopecia. This condition is an autosomal recessive genetic disorder. This implicates the child would exhibit the symptoms when the child inherits two copies of defective transglutaminase 1 gene.