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Journal of Bone and Mineral Metabolism
Published in: Journal of Bone and Mineral Metabolism 2/2016

01-03-2016 | Review Article

IFITM5 mutations and osteogenesis imperfecta

Author: Nobutaka Hanagata

Published in: Journal of Bone and Mineral Metabolism | Issue 2/2016

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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.
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Metadata
Title
IFITM5 mutations and osteogenesis imperfecta
Author
Nobutaka Hanagata
Publication date
01-03-2016
Publisher
Springer Japan
Published in
Journal of Bone and Mineral Metabolism / Issue 2/2016
Print ISSN: 0914-8779
Electronic ISSN: 1435-5604
DOI
https://doi.org/10.1007/s00774-015-0667-1

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