COL8A2 cdna clone
COL8A2 cDNA Clone
NCBI and Uniprot Product Information
NCBI Description
This gene encodes the alpha 2 chain of type VIII collagen. This protein is a major component of the basement membrane of the corneal endothelium and forms homo- or heterotrimers with alpha 1 (VIII) type collagens. Defects in this gene are associated with Fuchs endothelial corneal dystrophy and posterior polymorphous corneal dystrophy type 2. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Uniprot Description
COL8A2: Macromolecular component of the subendothelium. Major component of the Descemet's membrane (basement membrane) of corneal endothelial cells. Also component of the endothelia of blood vessels. Necessary for migration and proliferation of vascular smooth muscle cells and thus, has a potential role in the maintenance of vessel wall integrity and structure, in particular in atherogenesis. Defects in COL8A2 are the cause of corneal dystrophy Fuchs endothelial type 1 (FECD1). It is an ocular disorder caused by loss of endothelium of the central cornea. It is characterized by focal wart-like guttata that arise from Descemet membrane and develop in the central cornea, epithelial blisters, reduced vision and pain. Descemet membrane is thickened by abnormal collagenous deposition. Defects in COL8A2 are the cause of posterior polymorphous corneal dystrophy type 2 (PPCD2). PPCD is a rare bilateral familial disorder of the corneal epithelium, and is inherited in a autosomal dominant pattern. The clinical features usually present earlier than FECD, being from birth onwards. The disorder is characterized by alterations of Descemet membrane presenting as vesicles, opacities or band-like lesions on slit- lamp examination and specular microscopy. Affected patient typically are asymptomatic.
Protein type: Extracellular matrix; Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 1p34.2
Cellular Component: endoplasmic reticulum lumen; extracellular matrix; extracellular region
Biological Process: collagen catabolic process; extracellular matrix organization and biogenesis
Disease: Corneal Dystrophy, Fuchs Endothelial, 1; Corneal Dystrophy, Posterior Polymorphous, 2
Research Articles on COL8A2
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Product Notes
The COL8A2 col8a2 (Catalog #AAA1267076) is a cDNA Clone and is intended for research purposes only. The product is available for immediate purchase. The amino acid sequence is listed below: ATGCTGGGGA CTCTGACACC CCTGTCTTCG CTGCTGCTGC TGCTACTGGT GCTGGTGCTG GGGTGTGGGC CGCGGGCGTC CTCTGGTGGC GGGGCCGGTG GGGCGGCGGG CTATGCCCCA GTGAAGTACA TCCAGCCCAT GCAGAAAGGA CCTGTGGGAC CGCCCTTCCG TGAGGGCAAA GGCCAGTACC TGGAAATGCC TCTACCGCTG CTGCCGATGG ACCTGAAGGG AGAGCCCGGC CCCCCTGGGA AGCCCGGGCC TCGGGGTCCC CCTGGCCCCC CTGGCTTCCC AGGAAAACCA GGCATGGGAA AGCCAGGACT CCATGGGCAG CCTGGCCCTG CTGGGCCCCC TGGCTTCTCC CGGATGGGCA AGGCTGGTCC CCCAGGGCTC CCTGGCAAGG TCGGGCCACC AGGGCAGCCG GGGCTTCGGG GGGAGCCAGG AATACGAGGG GACCAGGGCC TCCGGGGACC CCCAGGACCC CCTGGCCTCC CGGGCCCCTC AGGCATTACT ATCCCTGGAA AACCAGGTGC CCAAGGGGTG CCAGGGCCCC CAGGATTCCA GGGGGAACCA GGGCCCCAGG GGGAGCCTGG GCCCCCAGGT GATCGAGGCC TCAAGGGGGA TAATGGAGTG GGCCAGCCCG GGCTGCCTGG GGCCCCAGGG CAGGGGGGTG CCCCCGGCCC CCCCGGCCTC CCTGGTCCAG CTGGCTTAGG CAAACCTGGT TTGGATGGGC TTCCTGGGGC CCCAGGAGAC AAGGGTGAGT CTGGGCCTCC TGGGGCCTTC GATGAGACTG GCATCGCAGG CTTGCACCTG CCCAACGGCG GTGTGGAGGG TGCCGTGCTG GGCAAGGGGG GCAAGCCACA GTTTGGGCTG GGCGAGCTGT CTGCCCATGC CACACCGGCC TTCACTGCGG TGCTCACCTC GCCCTTCCCC GCCTCGGGCA TGCCCGTGAA ATTTGACCGG ACTCTCTACA ATGGCCACAG CGGCTACAAC CCAGCCACTG GCATCTTCAC CTGCCCTGTG GGCGGCGTCT ACTACTTTGC TTACCATGTG CACGTCAAGG GCACCAACGT GTGGGTGGCC CTGTACAAGA ACAACGTGCC GGCCACCTAT ACCTACGATG AGTACAAGAA GGGCTACCTG GACCAGGCAT CTGGTGGGGC CGTGCTCCAG CTGCGGCCCA ACGACCAGGT CTGGGTGCAG ATGCCGTCGG ACCAGGCCAA CGGCCTCTAC TCCACGGAGT ACATCCACTC CTCCTTTTCA GGATTCTTGC TCTGCCCCAC ATAA. It is sometimes possible for the material contained within the vial of "COL8A2, cDNA Clone" 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
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