Met>Val Substitution in a Highly Conserved Region of the Pro-alpha(1) Collagen C-Propeptide Domain Causes Alternative Splicing and a Mild EDS/OI Phenotype | oneedsvoice

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Met>Val Substitution in a Highly Conserved Region of the Pro-alpha(1) Collagen C-Propeptide Domain Causes Alternative Splicing and a Mild EDS/OI Phenotype

key information

source: Journal of Medical Genetics

year: 2004

authors: Symoens S, Nuytinck L, Legius E, Malfait F, Coucke PJ, De Paepe A

summary/abstract:

Type I procollagen is a fibrillar collagen consisting of two pro-a1(I) chains and one pro-a2(I) chain. This procollagen heterotrimer contains a central triple helical domain that is flanked by amino- and carboxy-terminal propeptides (N- and C-propeptides), which are cleaved off after assembly and secretion. The C-propeptides, involved in the formation of post-translational disulphide bonds, are responsible for the correct alignment of the three individual procollagen chains and direct chain–chain recognition.

organisation: University Hospital Ghent

DOI: 10.1136/jmg.2003.014589

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