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]

COL2A1: the alpha-1 chain of type II collagen, an extra-cellular matrix protein found in cartilage and the vitreous humor of the eye. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. Chondrocalcin is the calcium binding C-propeptide of this collagen molecule. Defects in this protein 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. There are two transcripts identified for this gene. Belongs to the fibrillar collagen family. 3 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted; Extracellular matrix

Chromosomal Location of Human Ortholog: 12q13.11

Cellular Component: extracellular matrix; extracellular space; collagen type II; endoplasmic reticulum lumen; extracellular region; basement membrane

Molecular Function: identical protein binding; platelet-derived growth factor binding; metal ion binding; extracellular matrix structural constituent conferring tensile strength

Biological Process: heart morphogenesis; axon guidance; proteoglycan metabolic process; inner ear morphogenesis; extracellular matrix organization and biogenesis; collagen fibril organization; central nervous system development; palate development; notochord development; extracellular matrix disassembly; collagen catabolic process; limb bud formation; sensory perception of sound; visual perception; regulation of gene expression; cartilage development; tissue homeostasis; chondrocyte differentiation; skeletal development; cartilage condensation; endochondral ossification

Disease: Platyspondylic Lethal Skeletal Dysplasia, Torrance Type; Achondrogenesis, Type Ii; Kniest Dysplasia; Otospondylomegaepiphyseal Dysplasia; Spondyloepimetaphyseal Dysplasia, Strudwick Type; Spondyloepiphyseal Dysplasia Congenita; Avascular Necrosis Of Femoral Head, Primary; Legg-calve-perthes Disease; Spondyloperipheral Dysplasia; Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness; Osteoarthritis With Mild Chondrodysplasia; Stickler Syndrome, Type I; Czech Dysplasia; Stickler Syndrome, Type I, Nonsyndromic Ocular