免 疫 原：KLH conjugated synthetic peptide derived from human Collagen II
抗原表位：231-330/1487
SWISS：P02458
Gene ID ：1280
Human Gene ID：1280

Collagens are highly conserved throughout evolution and are characterized by an uninterrupted "Glycine-X-Y" triplet repeat that is a necessary part of the triple helical structure. For these reasons it is often extremely difficult to generate antibodies with specificities to collagens. The development of type specific antibodies is dependent on NON DENATURED three dimensional epitopes. This may result in diminished reactivity of some antibodies with denatured collagen or formalin fixed, paraffin embedded tissues. Type II collagen is a fibrillar collagen found in cartilage and the vitreous humor of the eye. Collagen type II is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. 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.
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.
Subunit：Homotrimers of alpha 1(II) chains.
Subcellular Location：Secreted, extracellular space, extracellular matrix.
Tissue Specificity：Isoform 2 is highly expressed in juvenile chondrocyte and low in fetal chondrocyte.
Post-translational modifications：Probably 3-hydroxylated on prolines by LEPREL1 (By similarity). Proline residues at the third position of the tripeptide repeating unit (G-X-P) are hydroxylated in some or all of the chains. Proline residues at the second position of the tripeptide repeat
DISEASE：Defects in COL2A1 are the cause of spondyloepiphyseal dysplasia congenital type (SEDC) [MIM:183900]. This disorder is characterized by disproportionate short stature and pleiotropic involvement of the skeletal and ocular systems.
Defects in COL2A1 are
Similarity：Belongs to the fibrillar collagen family.
Contains 1 fibrillar collagen NC1 domain.
Contains 1 VWFC domain.
Important Note：This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.