title: IFITM5 mutations and osteogenesis imperfecta.
abstract: Interferon-induced transmembrane protein 5 (IFITM5) is an osteoblast-specific membrane protein that has been shown to be a positive regulatory factor for mineralization in vitro. However, Ifitm5 knockout mice do not exhibit serious bone abnormalities, and thus the function of IFITM5 in vivo remains unclear. Recently, a single point mutation (c.-14C>T) in the 5' untranslated region of IFITM5 was identified in patients with osteogenesis imperfecta type V (OI-V). Furthermore, a single point mutation (c.119C>T) in the coding region of IFITM5 was identified in OI patients with more severe symptoms than patients with OI-V. Although IFITM5 is not directly involved in the formation of bone in vivo, the reason why IFITM5 mutations cause OI remains a major mystery. In this review, the current state of knowledge of OI pathological mechanisms due to IFITM5 mutations will be reviewed.
authors.affiliation: Nanotechnology Innovation Station, National Institute for Materials Science, 1-2-1 Sengen, Tsukuba, Ibaraki, 305-0047, Japan. Hanagata.Nobutaka@nims.go.jp.|Graduate School of Life Science, Hokkaido University, N10W8, Kita-ku, Sapporo, Hokkaido, 060-0812, Japan. Hanagata.Nobutaka@nims.go.jp.
authors.forename: Nobutaka
authors.initials: N
authors.lastname: Hanagata
mesh_terms: D000818:Animals; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D010013:Osteogenesis Imperfecta / Q000000981:diagnostic imaging / Q000235:genetics* / Q000473:pathology; D010641:Phenotype
chemical_list: C575746:IFITM5 protein, human; D008565:Membrane Proteins
keywords: Heterozygous mutation; IFITM5; Osteogenesis imperfecta type V