Collagen II/COL2A1 Recombinant Protein | COL2A1 recombinant protein

Collagen II/COL2A1 Protein, Human, Recombinant (aa 1242-1487, His Tag)

Cat. Num. AAA8120972

• Gene Names: COL2A1; AOM; ANFH; SEDC; COL11A3
• Purity: >92% as determined by SDS-PAGE
• Synonyms: Collagen II/COL2A1; Collagen II/COL2A1 Protein; Human; Recombinant (aa 1242-1487; His Tag); Human COL2A1 Protein (aa 1242-1487; ANFH Protein; AOM Protein; COL11A3 Protein; SEDC Protein; STL1 Protein; collagen; type II; alpha 1; COL2A1 recombinant protein

• Host: HEK293 Cells
• Purity/Purification: >92% as determined by SDS-PAGE
• Form/Format: Lyophilized from sterile PBS, pH7.4. Normally 5%-8% trehalose, mannitol and 0.01% Tween80 are added as protectants before lyophilization. Please refer to the specific buffer information in the hard copy of CoA.
• Sequence: Asp1242-Leu1487

• Species: Human
• Endotoxin: <1.0EU per ug of the protein as determined by the LAL method
• Predicted N Terminal: His
• Tag: N-His
• Protein Construction: A DNA sequence encoding the amino acids (Asp 1242-Leu 1487) of human COL2A1 isoform 1 (P02458-2), known as chondrocalcin, was expressed, with a polyhistidine tag at the N-terminus.
• Reconstitution: A hardcopy of COA with reconstitution instruction is sent along with the products. Please refer to it for detailed information.
• Preparation and Storage: Samples are stable for up to twelve months from date of receipt at -20 degree C to -80 degree C. Store it under sterile conditions at -20 degree C to -80 degree C. It is recommended that the protein be aliquoted for optimal storage. Avoid repeated freeze-thaw cycles.; In general, recombinant proteins are provided as lyophilized powder which are shipped at ambient temperature. Bulk packages of recombinant proteins are provided as frozen liquid.; They are shipped out with blue ice.

SDS-Page

Related Product Information for COL2A1 recombinant protein

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.

References

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.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.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.

NCBI and Uniprot Product Information

• NCBI GI #: 111118976
• NCBI GeneID: 1280
• NCBI Accession #: NP_001835.3
• NCBI GenBank Nucleotide #: NM_001844.4
• UniProt Accession #: P02458; Q12985; Q14009; Q14044; Q14045; Q14046; Q14047; Q14056; Q14058; Q16672; Q1JQ82; A6NGA0
• Molecular Weight: 141,785 Da
• NCBI Official Full Name: collagen alpha-1(II) chain isoform 1
• NCBI Official Synonym Full Names: collagen, type II, alpha 1
• NCBI Official Symbol: COL2A1
• NCBI Official Synonym Symbols: AOM; ANFH; SEDC; COL11A3
• NCBI Protein Information: collagen alpha-1(II) chain; collagen alpha-1(II) chain; chondrocalcin; cartilage collagen; alpha-1 type II collagen; collagen II, alpha-1 polypeptide
• UniProt Protein Name: Collagen alpha-1(II) chain
• UniProt Gene Name: COL2A1
• UniProt Entry Name: CO2A1_HUMAN

NCBI Description

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]

Uniprot Description

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: Extracellular matrix; Secreted; Secreted, signal peptide

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; metal ion binding; platelet-derived growth factor binding; extracellular matrix structural constituent conferring tensile strength

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

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