Recombinant Human Collagen alpha-1 (II) chain (COL2A1), Truncated

Uniprot Id

P02458

Target Species

Human

Target Name

COL2A1

Target Full Name

Collagen alpha-1(II) chain

Target Function

Type II collagen is specific for cartilaginous tissues. It is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces.

Target Involvement

Spondyloepiphyseal dysplasia congenital type (SEDC); Spondyloepiphyseal dysplasia, Stanescu type (SEDSTN); Spondyloepimetaphyseal dysplasia, Strudwick type (SEMDSTWK); Achondrogenesis 2 (ACG2); Legg-Calve-Perthes disease (LCPD); Kniest dysplasia (KD); Avascular necrosis of femoral head, primary, 1 (ANFH1); Osteoarthritis with mild chondrodysplasia (OSCDP); Platyspondylic lethal skeletal dysplasia Torrance type (PLSD-T); Multiple epiphyseal dysplasia with myopia and conductive deafness (EDMMD); Spondyloperipheral dysplasia (SPD); Stickler syndrome 1 (STL1); Stickler syndrome 1 non-syndromic ocular (STL1O); Rhegmatogenous retinal detachment autosomal dominant (DRRD); Czech dysplasia (CZECHD)

Target Subcellular Location

Secreted, extracellular space, extracellular matrix.

Target Protein Families

Fibrillar collagen family

Target Tissue Specificity

Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.

Target Synonyms

Alpha 1 type II collagen; Alpha-1 type II collagen; AOM; Cartilage collagen; Chondrocalcin; CO2A1_HUMAN; COL11A3; Col2a1; Collagen 2; Collagen II alpha 1 polypeptide; SEDC

Target 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.