Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant disorder characterized by vascular abnormalities such as dilated vessels, hemorrhages, liver and lung congestion, and brain or heart ischemia.
Mutations in two genes, Endoglin (also designated CD105) and ALK-1 (Activin receptorlike kinase 1, also designated TGFbeta superfamily RI), are responsible for HHT.
Endoglin is mutated in HHT1, and ALK-1 is mutated in HHT2, both of which are thought to be caused by haploinsufficiency.
Endoglin and ALK-1 are type III and type I members of the TGFbeta receptor superfamily, respectively, that are expressed on vascular endothelial cells.
Endoglin can only bind ligands of the TGFbeta superfamily via association with the respective ligand binding receptors for TGFbeta1, TGFbeta3, Activin-A, BMP-2 and BMP-7.
The human ALK-1 gene encodes two protein species which exist as a result of either glycosylation or alternative splicing events.
ALK-1 preferentially binds TGFbeta1 and is expressed in bone marrow stromal cells, lung, brain, kidney and spleen.
Applications:Suitable for use in Western Blot, Immunohistochemistry.
Other applications not tested.
Recommended Dilution:Western Blot: 1:500-1:2000Immunohistochemistry: 1:50-1:200Optimal dilutions to be determined by the researcher.
Storage and Stability:May be stored at 4°C for short-term only.
Aliquot to avoid repeated freezing and thawing.
Store at -20°C.
Aliquots are stable for 12 months after receipt.
For maximum recovery of product, centrifuge the original vial after thawing and prior to removing the cap.
仕様
Size：50ul
Host：rabbit
Source Antibody：human
Grade：Affinity Purified
Purity：Purified by immunoaffinity chromatography.
Form：Supplied as a liquid PBS, 0.1% sodium azide, 50% glycerol.
Specificity：Recognizes endogenous levels of Endoglin. Species Crossreactivity: Human
