{"symbol":"COL2A1","synonyms":["AOM","SEDC","STL1","COL11A3","ANFH"],"name":"collagen, type II, alpha 1","description":"This gene encodes the alpha-1 chain of type II collagen, a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations in this gene 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. There are two transcripts identified for this gene. [provided by RefSeq, Jul 2008]","ncbiEntrezGeneId":1280,"ncbiEntrezGeneUrl":"http://www.ncbi.nlm.nih.gov/gene/1280","proteins":[{"symbol":"CO2A1_HUMAN","href":"/api/1.0/protein/CO2A1_HUMAN"}],"hgncRootFamilies":[{"name":"Collagens (COL)","href":"/api/1.0/gene_family/Collagens+%28COL%29"}]}