Transglutaminase 1 gene is mapped on chromosome 14q11.2 that contains 15 exons and 14 introns encoded by a membrane protein that catalyzes the addition of an alkyl group from an akylamine to a glutamine residue wherein this protein alkylation leads to cross-linking of proteins and catenation of polyamines to proteins.
Transglutaminase 1 is present in a cell that serves a framework of the outermost of the skin which made up of multiple proteins that are linked to one another or crosslinking. It has 2 variant forms that contains 2 nucleotide deletion near the 5 prime end using an alternate initiation codon.
Transglutaminase 1 gene mutations is associated withlamellar ichthyosis wherein a single change of DNA building blocks occurs cannot function normally or doesn’t produced at all leads to more severe features of the disorder causing skin abnormalities such as collodion membrane at birth, plate-likescales and alopecia.
Gene name: TGM1
Protein name: Protein-glutamine gamma-glutamyltransferase K