Birt-Hogg-Dubé (BHD) syndrome is a rare autosomal dominant cancer syndrome characterized by kidney tumors, benign tumors of the hair follicle and spontaneous pneumothorax.
BHD is also associated with neoplastic colonic polyps.
The BHD gene maps to chromosome 17p11.2 and encodes the protein folliculin.
Folliculin is widely expressed.
Notably, folliculin is expressed in the kidney, lung and skin, where BHD tumors arise.
Specifically, the (C)8 tract in exon 11 is a mutational hot spot in BHD.
BHD appears to have reduced penetrance or late onset.
In a study of the renal tumors in 30 BHD patients, preoperative computed tomography scans detect a mean of 5.3 tumors per patient with a range 1-28 tumors.
Multiple and bilateral tumors appear at a mean of 50.7 years.
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：100ul
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 FLCN. Species Crossreactivity: Human, mouse, rat
