COL2A1 Protein

Collagen, type II, alpha 1

COL2A1 Products

COL2A1 Protein, Recombinant

Molecule	Species	Description	Cat. No
COL2A1	Human	COL2A1(aa 1242-1487) Protein, Recombinant	11790-H07H

COL2A1 Related Areas

Adhesion Molecule>>Extracellular Matrix Molecule>>Extracellular Matrix Protein>>COL2A1

Stem Cell>>Mesenchymal Stem Cell (MSC)>>Chondrogenesis Marker>>COL2A1

COL2A1 Alternative Names

COL2A1, ANFH, AOM, COL11A3, MGC131516, SEDC [Homo sapiens]

Col2a1, Col2, Col2a, Col2a-1, Del1, Dmm, MGC90638 [Mus musculus]

COL2A1 Background

COL2A1 is the alpha-1 chain of type II collagen which is a fibrillar collagen found in cartilage and the vitreous humor of the eye. Mutations 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. 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. Type II collagen is specific for cartilaginous tissues. Thus COL2A1 is essential for the normal embryonic development of the skeleton, for linear growth and for the ability of cartilage to resist compressive forces. The regulation of COL2A1, likely results from a balance of both positive and negative proteins. The inhibition of COL2A1 transcription following treatment of chick sternal chondrocytes with growth factors was accompanied by increased EF1 expression. Overexpression of EF1 in differentiated chondrocytes resulted in decreased expression of a reporter construct containing a collagen II promoter/enhancer insert.

COL2A1 Related Studies

1. Chan D, et al. (1995) A COL2A1 mutation in achondrogenesis type II results in the replacement of type II collagen by type I and III collagens in cartilage. J Biol Chem. 270 (4): 1747-53.
2. Donoso LA, et al. (2003) Clinical variability of Stickler syndrome: role of exon 2 of the collagen COL2A1 gene. Surv Ophthalmol. 48 (2): 191-203.
3. Meulenbelt I, et al. (1999) Haplotype analysis of three polymorphisms of the COL2A1 gene and associations with generalised radiological osteoarthritis. Ann Hum Genet. 63 (5): 393-400.