Molecular weight (DA)
50kD
Immunogen
The antiserum was produced against synthesized peptide derived from the Internal region of human GDF6. AA range:311-360
Specificity
GDF-6 Polyclonal Antibody detects endogenous levels of GDF-6 protein.
Formulation
Liquid in PBS containing 50% glycerol, 0.5% BSA and 0.02% sodium azide.
Dilution rate
Western Blot: 1/500 - 1/2000. ELISA: 1/10000. Not yet tested in other applications.
Purification process (Immunogen)
The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Background
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],
Function
disease: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
Protein name
Growth/differentiation factor 6
Other name
GDF6; GDF16; Growth/differentiation factor 6; GDF-6; Growth/differentiation factor 16
Fields
>>Cytokine-cytokine receptor interaction;>>TGF-beta signaling pathway;>>Hippo signaling pathway
Human protein sequence Database
Q6KF10
Mouse protein sequence database
P43028
Rat protein sequence database
Q6HA10
Cellular localization
Secreted .
Tissue expression
Hindbrain,Testis,
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