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Background
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Alpha-1 chain of type II collagen is a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutant forms of this protein are associated with achondrogenesis, chondrodysplasia, early onset familial osteoarthritis, SED congenita, Langer-Saldino achondrogenesis, Kniest dysplasia, Stickler syndrome type I, and spondyloepimetaphyseal dysplasia Strudwick type. In addition, defects in processing chondrocalcin, a calcium binding protein that is the C-propeptide of this collagen molecule, are also associated with chondrodysplasia.
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Background
References
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- Olavarrieta,L., Clin. Genet. 73 (3), 262-267 (2008)
- McAlinden,A., Hum. Mutat. 29 (1), 83-90 (2008)
- Forzano,F., Am. J. Med. Genet. A 143 (23), 2815-2820 (2007)
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