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COL2A1

Official Full Name
collagen type II alpha 1 chain
Organism
Homo sapiens
GeneID
1280
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. [provided by RefSeq, Jul 2008]
Synonyms
AOM; ACG2; ANFH; LCPD; SEDC; STL1; VPED; ANFH1; EDMMD; OSCDP; PLSDT; SEDSTN; SMDALG; COL11A3; SEMDSTWK;

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