ITT6088
ITT6088
- Catalog: ITT6088
- Gene/Protein: COL8A2
- Product Description: Immunotag™ COL8A2 Polyclonal Antibody
385.0000
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Antibody Specification | |
Datasheet | |
Target Protein | COL8A2 |
Clonality | Polyclonal |
Storage/Stability | -20°C/1 year |
Application | WB,ELISA |
Recommended Dilution | WB 1:500-2000, ELISA 1:10000-20000 |
Concentration | 1 mg/ml |
Reactive Species | Human,Mouse,Rat |
Host Species | Rabbit |
Immunogen | Synthesized peptide derived from human COL8A2. at AA range: 611-660 |
Specificity | COL8A2 Polyclonal Antibody detects endogenous levels of COL8A2 |
Purification | The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen |
Form | Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide. |
Gene Name | COL8A2 |
Accession No. | P25067 P25318 |
Alternate Names | Collagen alpha-2(VIII) chain (Endothelial collagen) |
Description | collagen type VIII alpha 2 chain(COL8A2) Homo sapiens 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], |
Protein Expression | PCR rescued clones,Spleen, |
Subcellular Localization | extracellular region,proteinaceous extracellular matrix,collagen trimer,basement membrane,endoplasmic reticulum lumen,extracellular matrix, |
Protein Function | disease:Defects in COL8A2 are a cause of Fuchs endothelial corneal dystrophy (FECD) [MIM:136800]. FECD is the commonest primary disorder of the corneal endothelium in developed countries. Symptoms of painful visual loss result from corneal decompensation. Signs may be present from the fourth decade of life onwards. Tipically, focal wart-like guttata arising from Descemet membrane develops in the central cornea; Descemet membrane is thickened by abnormal collagenous deposition. FECD is usually sporadic but familial highly penetrant forms showing autosomal dominant inheritance are also recognized.,disease:Defects in COL8A2 are a cause of posterior polymorphous corneal dystrophy (PPCD) [MIM:122000]. PPCD is a slowly progressive hereditary disorder of the corneal endothelium that leads to a variable degree of visual impairment usually in adulthood. PPCD is usually inherited as an autosomal dominant trait.,disease:Defects in COL8A2 are the cause of posterior polymorphous corneal dystrophy 2 (PPCD2) [MIM:609140]. 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.,function:Major component of the Descemet membrane (basement membrane) of corneal endothelial cells.,PTM:Prolines at the third position of the tripeptide repeating unit (G-X-Y) are hydroxylated in some or all of the chains.,similarity:Contains 1 C1q domain.,subunit:May form homotrimers, or heterotrimers in association with alpha 1(VIII) type collagens., |
Usage | For Research Use Only! Not for diagnostic or therapeutic procedures. |