ANTI-GDF6

Description_x000D_ General description_x000D_ Growth differentiation factor 6 (GDF6) is a secreted signalling molecule, that belongs to the family of bone morphogenetic protein (BMP). Gdf6 is expressed in embryonic tissues that is concerned with patterning of skeletal and soft tissue. In human chromosome, the gene GDF6 is localized on 8q22.1._x000D_ Immunogen_x000D_ a 17 amino acid peptide near the carboxy-terminus of the human GDF6._x000D_ Application_x000D_ Anti-GDF6 antibody produced in rabbit has been used in western blotting._x000D_ Physical form_x000D_ Solution in phosphate buffered saline containing 0.02% sodium azide_x000D_ Disclaimer_x000D_ Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals._x000D_ Biochem/physiol Actions_x000D_ Growth differentiation factor 6 (GDF6) plays a crucial role in the joint formation during skeletal development. Gdf6 is involved in the maintenance of articular cartilage of knee. Mutation of GDF6 leads to loss-of-function and causes Klippel-Feil syndrome. Microduplication of GDF6 leads to an autosomal-dominant rheumatic condition, Leri′s pleonosteosis (LP). Mutations in GDF6 causes Multiple synostoses syndrome subtype SYNS4. In SYNS4, there is fusion of joints leading to progressive conductive deafness. GDF6 plays a key role in ocular development and the mutation of GDF6 leads to microphthalmia and anophthalmia. Mutations in GDF6 also leads to Leber congenital amaurosis-17._x000D_ Linkage_x000D_ The action of this antibody can be blocked using blocking peptide SBP4691.