Article
Homozygous variant in TKFC abolishing triokinase activities is associated with isolated immunodeficiency.
Journal of medical genetics - 29 Aug 2024
Tremblay-Laganière Camille, Michaud Coralie, Abourjaili-Bilodeau Raphaël, Cabezas Alicia, Canales José, Costas María Jesús, Ribeiro João M, Leclerc-Blain Jessica, Touzot Fabien, Haddad Elie, Teira Pierre, Duval Michel, Onoufriadis Alexandros, Meunier Brigitte, Cameselle José Carlos, Campeau Philippe M
Abstract excerpt
BACKGROUND: Triokinase and FMN cyclase (TKFC) is a bifunctional enzyme involved in fructose metabolism. Triokinase catalyses the phosphorylation of fructose-derived glyceraldehyde (GA) and exogenous dihydroxyacetone (DHA), while FMN cyclase generates cyclic FMN. TKFC regulates the antiviral immune response by interacting with IFIH1 (MDA5). Previously reported pathogenic variants in TKFC are associated with either...
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