title: Dysfunction of phospholipase Cγ in immune disorders and cancer.
abstract: The surge in genetic and genomic investigations over the past 5 years has resulted in many discoveries of causative variants relevant to disease pathophysiology. Although phospholipase C (PLC) enzymes have long been recognized as important components in intracellular signal transmission, it is only recently that this approach highlighted their role in disease development through gain-of-function mutations. In this review we describe the new findings that link the PLCγ family to immune disorders and cancer, and illustrate further efforts to elucidate the molecular mechanisms that underpin their dysfunction.
authors.affiliation: Institute of Structural and Molecular Biology, Division of Biosciences, University College London, London, UK; Division of Molecular Structure, Medical Research Council (MRC) National Institute for Medical Research, London, UK.
authors.forename: Hans
authors.initials: H
authors.lastname: Koss
authors.affiliation: Institute of Structural and Molecular Biology, Division of Biosciences, University College London, London, UK. Electronic address: t.bunney@ucl.ac.uk.
authors.forename: Tom D
authors.initials: TD
authors.lastname: Bunney
authors.affiliation: Cancer Genome Project, Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, UK.
authors.forename: Sam
authors.initials: S
authors.lastname: Behjati
authors.affiliation: Institute of Structural and Molecular Biology, Division of Biosciences, University College London, London, UK. Electronic address: m.katan@ucl.ac.uk.
authors.forename: Matilda
authors.initials: M
authors.lastname: Katan
mesh_terms: D000818:Animals; D004075:Diglycerides / Q000378:metabolism; D006801:Humans; D007154:Immune System Diseases / Q000276:immunology / Q000378:metabolism*; D015544:Inositol 1,4,5-Trisphosphate / Q000378:metabolism; D008954:Models, Biological; D008958:Models, Molecular; D009154:Mutation; D009369:Neoplasms / Q000235:genetics / Q000378:metabolism*; D051966:Phospholipase C gamma / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D011487:Protein Conformation; D015290:Second Messenger Systems
chemical_list: D004075:Diglycerides; D015544:Inositol 1,4,5-Trisphosphate; C522157:PLCG1 protein, human; D051966:Phospholipase C gamma
keywords: cancer; deregulation of signaling; disease-linked mutations; immune disorders; phospholipase C