Target Information
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.
Synonyms
alpha 1 type II procollagen; alpha 1 type IIA collagen; alpha 1 type IIA collagen precursor; alpha collagen type II; alpha-1 type II collagen; ANFH; AOM; arthroophthalmopathy, progressive (Stickler syndrome); cartilage collagen; CB11; CG2A1A; CGA; Chondrocalcin; COL11A3; Col2; Col2a; col2a1; Col2a-1; col2a1.L; col2a1a; col2a1-a; col2a1-b; Collagen 2; Collagen alpha-1(II) chain; collagen II, alpha-1 polypeptide; collagen type II (Col2A1) gene, enhancer region; collagen type II alpha 1 chain; collagen type IIA; collagen, type II, alpha 1; collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital); collagen, type II, alpha 1 L homeolog; COLLII; cyanogen bromide; Del1; disproportionate micromelia; Dmm; Lpk; M100856; MGC131516; pro alpha1 type II collagen; pro-alpha 1(II); pro-alpha-1 type II collagen; procollagen alpha 1(II); Procollagen II alpha 1; procollagen, type II, alpha 1; Rgsc856; SEDC; STL1; type II collagen; type II collagen cyanogen bromide fragment CB10; type II collogen cyanogen bromide fragment CB8; unnamed protein product; X-col II; xcol2a1; XELAEV_18013523mg