GDF6; KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; LCA17; MCOP4; SCDO4; MCOPCB6; GDF16GDF-6; growth differentiation factor 6

For Research Use Only. Not for use in diagnostic procedures.

Polyclonal

IgG

Rabbit

GDF6 Antibody is affinity chromatography purified via peptide column.

Liquid

1 mg/mL (lot specific)

GDF6 antibody can be stored at 4 degree C for three months and -20 degree C, stable for up to one year. As with all antibodies care should be taken to avoid repeated freeze thaw cycles. Antibodies should not be exposed to prolonged high temperatures.

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.

GDF6 Antibody: Growth differentiation factors (GDFs) are members of the transforming growth factor (TGF) superfamily that is involved in embryonic development and ***** tissue homeostasis. Both GDF6 and GDF7 are closely related to GDF5 which has been shown to induce activation of plasminogen activator, thereby inducing angiogenesis. It is predominantly expressed in long bones during fetal embryonic development and is involved in bone formation. In Xenopus, GDF6 is expressed at the edge of the neural plate and within the anterior neural plate including the eye fields. GDF6 is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. It may regulate patterning of the ectoderm by interacting with bone morphogenetic proteins (BMPs), and control eye development. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), a congenital disorder of spinal segmentation.

ELISA (EIA), Western Blot (WB)

GDF6 antibody can be used for detection of GDF6 by Western blot at 0.5 to 1 mug/mL.

Western blot analysis of GDF6 in SK-N-SH lysate with GDF6 antibody at (A) 0.5 and (B) 1 μg/mL.

50,662 Da

growth differentiation factor 6

growth/differentiation factor 6; GDF-6; Klippel-Feil syndrome; Klip-Feil malformation; Klippel-Feil malformation; bone morphogenetic protein 13; growth/differentiation factor 16

Growth/differentiation factor 6

BMP13; GDF16; GDF-6; BMP-13??[Similar Products]

GDF6_HUMAN

This gene encodes a member of the bone morphogenetic protein (BMP) family and the TGF-beta superfamily of secreted signaling molecules. It is required for normal formation of some bones and joints in the limbs, skull, and axial skeleton. Mutations in this gene result in colobomata, which are congenital abnormalities in ocular development, and in Klippel-Feil syndrome (KFS), which is a congenital disorder of spinal segmentation. [provided by RefSeq, Jul 2008]

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: protein homodimerization activity; growth factor activity; cytokine activity; transforming growth factor beta receptor binding

Biological Process: regulation of apoptosis; BMP signaling pathway; apoptosis; regulation of MAPKKK cascade; positive regulation of transcription, DNA-dependent; activin receptor signaling pathway; positive regulation of neuron differentiation; cell development; growth

Disease: Klippel-feil Syndrome 1, Autosomal Dominant; Microphthalmia, Isolated 4; Leber Congenital Amaurosis 17; Microphthalmia, Isolated, With Coloboma 6

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