IVD Test Reagent/Kits, Molecular Assay, Gene Anomaly, Mutation, TGM1
Definition : Molecular assay reagents intended to identify mutations in the transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1) gene, located at chromosome 14q11.2, which encodes for a membrane protein that catalyzes the cross-linking of proteins and the conjugation of polyamines to proteins. This inherited genetic mutation has been identified in patients with autosomal recessive congenital ichthyosis (ARCI).
Entry Terms : "Ichthyosis, Lamellar, Autosomal Recessive Gene Mutation Reagents" , "TGM1-Related Autosomal Recessive Congenital Ichthyosis Gene Mutation Reagents" , "Autosomal Recessive Lamellar Ichthyosis (ARLI) Gene Mutation Reagents" , "TGM1 Gene Mutation Detection Reagents" , "Reagents, Molecular Assay, Gene Anomaly, Mutation, TGM1"
UMDC code : 24992