ANFH antibody, AOM antibody, COL11A3 antibody, SEDC antibody, Col2 antibody, Col2a antibody, Col2a-1 antibody, Del1 antibody, Dmm antibody, Lpk antibody, M100856 antibody, Rgsc856 antibody, CG2A1A antibody, COLLII antibody, col2a1a antibody, CB11 antibody, col2a1 antibody, coll2a1 antibody, fb38c06 antibody, fc10c01 antibody, wu:fb38c06 antibody, wu:fc10c01 antibody, collagen type II alpha 1 chain antibody, collagen, type II, alpha 1 antibody, collagen, type II, alpha 1 L homeolog antibody, collagen, type II, alpha 1 S homeolog antibody, collagen, type II, alpha 1a antibody, COL2A1 antibody, Col2a1 antibody, col2a1 antibody, col2a1.L antibody, col2a1.S antibody, col2a1a antibody
Background
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.,COL2A1,ANFH,AOM,COL11A3,SEDC,STL1,Signal Transduction,Cell Biology & Developmental Biology,Cytoskeleton,Extracellular Matrix,Collagen,Bone,Stem Cells,Mesenchymal Stem Cells,COL2A1