NCBI and Uniprot Product Information
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; endoplasmic reticulum lumen; collagen type II; extracellular region; basement membrane
Molecular Function: identical protein binding; platelet-derived growth factor binding; metal ion binding; extracellular matrix structural constituent conferring tensile strength
Biological Process: heart morphogenesis; axon guidance; proteoglycan metabolic process; inner ear morphogenesis; extracellular matrix organization and biogenesis; collagen fibril organization; central nervous system development; palate development; notochord development; collagen catabolic process; limb bud formation; 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; Spondyloepiphyseal Dysplasia Congenita; Avascular Necrosis Of Femoral Head, Primary; Stickler Syndrome, Type I, Nonsyndromic Ocular
Research Articles on Col II
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Product Notes
The Monkey Col II col2a1 (Catalog #AAA735330) is an ELISA Kit and is intended for research purposes only. The product is available for immediate purchase. The AAA735330 ELISA Kit recognizes Monkey Col II. It is sometimes possible for the material contained within the vial of "Collagen Type II, ELISA Kit" to become dispersed throughout the inside of the vial, particularly around the seal of said vial, during shipment and storage. We always suggest centrifuging these vials to consolidate all of the liquid away from the lid and to the bottom of the vial prior to opening. Please be advised that certain products may require dry ice for shipping and that, if this is the case, an additional dry ice fee may also be required.Precautions
All products in the AAA Biotech catalog are strictly for research-use only, and are absolutely not suitable for use in any sort of medical, therapeutic, prophylactic, in-vivo, or diagnostic capacity. By purchasing a product from AAA Biotech, you are explicitly certifying that said products will be properly tested and used in line with industry standard. AAA Biotech and its authorized distribution partners reserve the right to refuse to fulfill any order if we have any indication that a purchaser may be intending to use a product outside of our accepted criteria.Disclaimer
Though we do strive to guarantee the information represented in this datasheet, AAA Biotech cannot be held responsible for any oversights or imprecisions. AAA Biotech reserves the right to adjust any aspect of this datasheet at any time and without notice. It is the responsibility of the customer to inform AAA Biotech of any product performance issues observed or experienced within 30 days of receipt of said product. To see additional details on this or any of our other policies, please see our Terms & Conditions page.Item has been added to Shopping Cart
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