Full Product Name
GDF6 Antibody
Product Gene Name
anti-GDF6 antibody
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Research Use Only
For Research Use Only. Not for use in diagnostic procedures.
3D Structure
ModBase 3D Structure for Q6KF10
Species Reactivity
Human, Mouse, Rat
Concentration
1.0mg/ml (lot specific)
Other Notes
Small volumes of anti-GDF6 antibody vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.
Applications Tested/Suitable for anti-GDF6 antibody
Western Blot (WB)
NCBI/Uniprot data below describe general gene information for GDF6. It may not necessarily be applicable to this product.
NCBI Accession #
NP_001001557.1
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NCBI GenBank Nucleotide #
NM_001001557.3
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UniProt Primary Accession #
Q6KF10
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UniProt Secondary Accession #
Q6PI58[Other Products]
UniProt Related Accession #
Q6KF10[Other Products]
Molecular Weight
50,662 Da
NCBI Official Full Name
growth/differentiation factor 6 preproprotein
NCBI Official Synonym Full Names
growth differentiation factor 6
NCBI Official Symbol
GDF6??[Similar Products]
NCBI Official Synonym Symbols
KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; BMP-13
??[Similar Products]
NCBI Protein Information
growth/differentiation factor 6
UniProt Protein Name
Growth/differentiation factor 6
UniProt Synonym Protein Names
Bone morphogenetic protein 13; BMP-13; Growth/differentiation factor 16
Protein Family
Growth/differentiation factor
UniProt Gene Name
GDF6??[Similar Products]
UniProt Synonym Gene Names
BMP13; GDF16; GDF-6; BMP-13??[Similar Products]
NCBI Summary for GDF6
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]
UniProt Comments for GDF6
GDF6: Required for normal formation of bones and joints in the limbs, skull, and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Defects in GDF6 are the cause of Klippel-Feil syndrome type 1 (KFS1). A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a well- known feature of KFS and may be of sensorineural, conductive, or mixed type. A chromosomal aberration involving GDF6 has been found in a patient with Klippel-Feil syndrome (KFS). Paracentric inv(8)(q22;2q23.3). Defects in GDF6 are the cause of microphthalmia isolated type 4 (MCOP4). A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, cataract and other abnormalities like cataract may also be present. Belongs to the TGF-beta family.
Protein type: Cell development/differentiation; Cytokine; Secreted; Secreted, signal peptide
Chromosomal Location of Human Ortholog: 8q22.1
Cellular Component: extracellular space
Molecular Function: cytokine activity; transforming growth factor beta receptor binding
Biological Process: activin receptor signaling pathway; apoptosis; BMP signaling pathway; cell development; fat cell differentiation; positive regulation of chondrocyte differentiation; positive regulation of transcription, DNA-dependent; regulation of apoptosis; regulation of MAPKKK cascade
Disease: Klippel-feil Syndrome 1, Autosomal Dominant; Leber Congenital Amaurosis 17; Microphthalmia, Isolated 4; Microphthalmia, Isolated, With Coloboma 6
Research Articles on GDF6
1. findings indicate that increased BMP signaling owing to a GDF6 gain-of-function mutation is responsible for loss of joint formation and profound functional impairment in patients with Multiple Synostoses Syndrome 4.
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