COL2A1 cDNA Clone – Collagen, Type II, Alpha 1 (Human)

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; Secreted, signal peptide; Extracellular matrix

Chromosomal Location of Human Ortholog: 12q13.11

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

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

Biological Process: cartilage development; collagen catabolic process; collagen fibril organization; extracellular matrix organization and biogenesis; regulation of immune response; sensory perception of sound; skeletal development; visual perception

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