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Current Osteoporosis Reports
Published in: Current Osteoporosis Reports 2/2010

01-06-2010

Role of Cartilage-Associated Protein in Skeletal Development

Authors: Roy Morello, Frank Rauch

Published in: Current Osteoporosis Reports | Issue 2/2010

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Abstract

The past 3 years have been exciting for collagen biologists and human geneticists studying the disease known as osteogenesis imperfecta (OI or brittle bone disease). Functional studies on cartilage-associated protein (Crtap) have identified it as an essential component of a heterotrimeric, endoplasmic reticulum resident complex responsible for collagen prolyl 3-hydroxylation and chaperone function. Importantly, human mutations in the CRTAP gene have been associated with recessive forms of OI. Although the function and in vivo biological significance of the 3-hydroxyproline modification are still poorly understood, studies on Crtap have led to the identification of additional genes in which mutations also cause recessive forms of OI. These discoveries have now focused the interest of geneticists on the endoplasmic reticulum that will require the help of biochemists to unravel the molecular dynamics and complexities of collagen folding.
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Metadata
Title
Role of Cartilage-Associated Protein in Skeletal Development
Authors
Roy Morello
Frank Rauch
Publication date
01-06-2010
Publisher
Current Science Inc.
Published in
Current Osteoporosis Reports / Issue 2/2010
Print ISSN: 1544-1873
Electronic ISSN: 1544-2241
DOI
https://doi.org/10.1007/s11914-010-0010-7

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