SERPINH1 and Osteogenesis Imperfecta

Jay R. Shapiro

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The SERPINH1 gene (OMIM 600943) on chromosome 11q13.5 encodes the collagen chaperone SERPINHI/HSP47. HSP47 is essential for the correct folding of types I-V procollagens in the endoplasmic reticulum (ER). Recent reports have associated mutations in ER collagen chaperone proteins with recessively inherited moderate to severe OI phenotypes. A SERPINH1 mutation has been reported in a child with a severe deforming form of osteogenesis imperfecta (OI) who was born to consanguineous Saudi Arabian parents. Mutations in HSP47 affecting both the protein and binding sites for HSP47 on the collagen triple helix are reviewed. This chapter will discuss the role of SERPINH1 in normal collagen biosynthesis and the expression of this mutation as a cause of moderately severe OI.

Original languageEnglish (US)
Title of host publicationOsteogenesis Imperfecta
Subtitle of host publicationA Translational Approach to Brittle Bone Disease
PublisherElsevier Inc.
Pages159-165
Number of pages7
ISBN (Print)9780123971654
DOIs
StatePublished - Sep 2013

Keywords

  • Chaperone
  • HSP47
  • Osteogenesis imperfecta
  • SERPINH1
  • Type I collagen

ASJC Scopus subject areas

  • Dentistry(all)
  • Medicine(all)

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