SERPINH1 and Osteogenesis Imperfecta

Jay R. Shapiro

doi:10.1016/B978-0-12-397165-4.00016-2

SERPINH1 and Osteogenesis Imperfecta

Jay R. Shapiro

School of Medicine

Research output: Chapter in Book/Report/Conference proceeding › Chapter

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 language	English (US)
Title of host publication	Osteogenesis Imperfecta
Subtitle of host publication	A Translational Approach to Brittle Bone Disease
Publisher	Elsevier Inc.
Pages	159-165
Number of pages	7
ISBN (Print)	9780123971654
DOIs	https://doi.org/10.1016/B978-0-12-397165-4.00016-2
State	Published - Sep 2013

Keywords

Chaperone
HSP47
Osteogenesis imperfecta
SERPINH1
Type I collagen

ASJC Scopus subject areas

Dentistry(all)
Medicine(all)

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10.1016/B978-0-12-397165-4.00016-2

Cite this

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title = "SERPINH1 and Osteogenesis Imperfecta",

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.",

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N2 - 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.

AB - 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.

KW - Chaperone

KW - HSP47

KW - Osteogenesis imperfecta

KW - SERPINH1

KW - Type I collagen

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SP - 159

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BT - Osteogenesis Imperfecta

PB - Elsevier Inc.

ER -

SERPINH1 and Osteogenesis Imperfecta

Abstract

Keywords

ASJC Scopus subject areas

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