Product Information
Molecular Weight50662Da
Protein NameGrowth/differentiation factor 6
Human Gene Id392255
Human Swiss Prot NoQ6KF10
Mouse Gene Id242316
Mouse Swiss Prot NoP43028
Rat Gene Id252834
Rat Swiss Prot NoQ6HA10
SpecificityGDF-6 Polyclonal Antibody detects endogenous levels of GDF-6 protein.
FormulationLiquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Concentration1 mg/ml
Storage Stability-20°C/1 year
Other NameGDF6; GDF16; Growth/differentiation factor 6; GDF-6; Growth/differentiation factor 16
Observed Band(KD)50
Functiondisease:A chromosomal aberration involving GDF6 is associated with Klippel-Feil syndrome (KFS) [MIM:118100]. Paracentric inv(8)(q22;2q23.3).,disease:Defects in GDF6 are associated with Klippel-Feil syndrome (KFS) [MIM:118100]. Klippel-Feil syndrome is a complex skeletal disorder characterized by congenital fusion of vertebrae within the anterior/cervical spine. Vertebral fusion appears to be caused by a failure in the normal segmentation of vertebrae during the early weeks of fetal development and defective somitogenesis has been postulated as a mitigating factor. However, the etiology of KFS is still unknown and no definitive disease-causing genes have yet been identified. Although most cases are sporadic, both autosomal dominant and autosomal recessive inheritance have been reported.,function:Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Pla
Subcellular Locationextracellular region,extracellular space,
ExpressionHindbrain,Testis,
Backgroundgrowth differentiation factor 6(GDF6) Homo sapiens This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate each subunit of the disulfide-linked homodimer. This protein is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene are associated with Klippel-Feil syndrome, microphthalmia, and Leber congenital amaurosis. [provided by RefSeq, Sep 2016],