Rabbit anti-BHD IHC Antibody Affinity Purified
Catalog #
BHD
Human
IHC
Rabbit
Polyclonal
Whole IgG
Between 1 and 50
IgG
Unconjugated
Antigen Affinity Purified
Product Details
Human
Human
2 - 8 °C
1 year from date of receipt
Defects in the folliculin (FLCN) gene are the cause of Birt-Hogg-Dube syndrome (BHD) [MIM:135150]. BHD is a rare autosomal dominant genodermatosis characterized by hair follicle hamartomas (fibrofolliculomas), kidney tumors, and spontaneous pneumothorax. Fibrofolliculomas are part of the triad of BHD skin lesions that also includes trichodiscomas and acrochordons. Defects in FLCN may also be the cause of primary spontaneous pneumothorax (PSP) [MIM:173600], a condition in which air is present in the pleural space in the absence of a precipitating event, such as trauma or lung disease. Folliculin may be a tumor suppressor involved in colorectal and renal cell tumorigenesis [taken from the Universal Protein Resource (UniProt) www.uniprot.org/uniprot/Q8NFG4].
Alternate Names
BHD; BHD skin lesion fibrofolliculoma protein; birt-Hogg-Dube syndrome protein; FLCL; folliculin
Applications