Article
Novel and recurrent mutations in the C-terminal domain of COMP cluster in two distinct regions and result in a spectrum of phenotypes within the pseudoachondroplasia -- multiple epiphyseal dysplasia disease group.
Human mutation - 1 Jun 2005
Kennedy Jason, Jackson Gail C, Barker Faye S, Nundlall Seema, Bella Jordi, Wright Michael J, Mortier Geert R, Neas Katherine, Thompson Elizabeth, Elles Rob, Briggs Michael D
Abstract excerpt
Pseudoachondroplasia (PSACH) and some forms of multiple epiphyseal dysplasia (MED) result from mutations in the gene encoding cartilage oligomeric matrix protein (COMP). COMP is a large pentameric glycoprotein found predominantly in the extracellular matrix of cartilage, tendon, and ligament. As a modular protein, it is composed of a coiled-coil domain, four type II (T2) repeats, eight type III (T3) repeats, and...
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