Current Osteoporosis Reports

, Volume 8, Issue 2, pp 77–83

Role of Cartilage-Associated Protein in Skeletal Development


DOI: 10.1007/s11914-010-0010-7

Cite this article as:
Morello, R. & Rauch, F. Curr Osteoporos Rep (2010) 8: 77. doi:10.1007/s11914-010-0010-7


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.


Cartilage-associated protein Crtap mutations Skeletal development Osteogenesis imperfecta 

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  1. 1.Department of Physiology and BiophysicsUniversity of Arkansas for Medical SciencesLittle RockUSA
  2. 2.Genetics Unit, Shriners Hospital for Children, Department of PediatricsMcGill UniversityMontrealCanada

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