Staining of formalin/parafin tissues requires disgestion of tissue sections with pepsin at 1mg/ml Tris-HCl, pH 2.0 for 15 min at RT or 10 min at 37C.
COL2A1 is 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.
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Protein Aliases: alpha 1 type II procollagen; alpha 1 type IIA collagen; alpha collagen type II; Alpha-1 type II collagen; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; CGA; Chondrocalcin; Collagen 2; Collagen alpha-1(II) chain; collagen II, alpha-1 polypeptide; collagen type II (Col2A1) gene, enhancer region; collagen, type II, alpha 1; collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital); disproportionate micromelia; MGC131516; pro-alpha 1(II); procollagen alpha 1(II); Procollagen II alpha 1; procollagen, type II, alpha 1; type II collagen; unnamed protein product
Gene Aliases: ANFH; AOM; CB11; CG2A1A; COL11A3; Col2; Col2a; Col2a-1; COL2A1; COLLII; Del1; Dmm; Lpk; M100856; Rgsc856; SEDC; STL1