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.
Immunogen
a 17 amino acid peptide near the carboxy-terminus of the human GDF6.
Application
Anti-GDF6 antibody produced in rabbit has been used in western blotting.
Biochem/physiol Actions
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.
Linkage
The action of this antibody can be blocked using blocking peptide SBP4691.
Physical form
Solution in phosphate buffered saline containing 0.02% sodium azide
Disclaimer
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.
A new subtype of multiple synostoses syndrome is caused by a mutation in GDF6 that decreases its sensitivity to noggin and enhances its potency as a BMP signal
Wang J, et al.
Journal of Bone and Mineral Research, 31(4), 882-889 (2016)
Growth differentiation factor 6 derived from mesenchymal stem/stromal cells reduces age-related functional deterioration in multiple tissues
Hisamatsu D, et al.
Aging (Albany. NY.), 8(6), 1259-1259 (2016)
Eye and neural defects associated with loss of GDF6
The senescence-associated secretory phenotype (SASP) has attracted attention as a mechanism that connects cellular senescence to tissue dysfunction, and specific SASP factors have been identified as systemic pro-aging factors. However, little is known about the age-dependent changes in the secretory
GDF6, a novel locus for a spectrum of ocular developmental anomalies
Asai-Coakwell M, et al.
American Journal of Human Genetics, 80(2), 306-315 (2007)
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