Ontology highlight
ABSTRACT:
SUBMITTER: Lindert U
PROVIDER: S-EPMC4935805 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Nature communications 20160706
Osteogenesis imperfecta (OI) is a collagen-related bone dysplasia. We identified an X-linked recessive form of OI caused by defects in MBTPS2, which encodes site-2 metalloprotease (S2P). MBTPS2 missense mutations in two independent kindreds with moderate/severe OI cause substitutions at highly conserved S2P residues. Mutant S2P has normal stability, but impaired functioning in regulated intramembrane proteolysis (RIP) of OASIS, ATF6 and SREBP transcription factors, consistent with decreased prob ...[more]