Rabbit anti-Human, Mouse GDF6 Polyclonal Antibody | anti-GDF6 antibody

GDF6, CT (Growth/Differentiation Factor 6, GDF-6, Growth/Differentiation Factor 16, GDF16) (PE)

Cat. Num. AAA6479220

• Gene Names: GDF6; KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; LCA17; MCOP4; SCDO4; BMP-13; MCOPCB6
• Reactivity: Human, Mouse
• Applications: Western Blot, ELISA, Immunohistochemistry
• Purity: Purified by Ammonium Sulfate Precipitation.
• Synonyms: GDF6; Polyclonal Antibody; CT (Growth/Differentiation Factor 6; GDF-6; Growth/Differentiation Factor 16; GDF16) (PE); anti-GDF6 antibody

• Host: Rabbit
• Reactivity: Human, Mouse
• Clonality: Polyclonal
• Isotype: IgG
• Specificity: Recognizes human GDF6. Species Crossreactivity: mouse.
• Purity/Purification: Purified by Ammonium Sulfate Precipitation.
• Form/Format: Supplied as a liquid in PBS, pH 7.2. No preservative added. Labeled with R-Phycoerythrin (PE).

• Applicable Applications for anti-GDF6 antibody: Western Blot (WB), ELISA (EIA), Immunohistochemistry (IHC)
• Application Notes: WB: 1:50-1:100; ELISA: 1:1,000; Applications are based on unconjugated antibody.
• Immunogen: Synthetic peptide selected from the C-terminal region of human GDF6 (KLH).
• Conjugate: PE
• Note: Preservative Free
• Preparation and Storage: Store product at 4 degree C in the dark. DO NOT FREEZE! Stable at 4 degree C for 12 months after receipt as an undiluted liquid. Dilute required amount only prior to immediate use. Further dilutions can be made in assay buffer. Caution: PE conjugates are sensitive to light. For maximum recovery of product, centrifuge the original vial prior to removing the cap.

Western Blot (WB)

(Western blot analysis of GDF6 antibody (C-term) in mouse kidney tissue lysates (35ug/lane). GDF6 (arrow) was detected using the purified Pab.)

Immunohistochemistry (IHC)

(Formalin-fixed and paraffin-embedded human brain tissue reacted with GDF6 Antibody (C-term), which was peroxidase-conjugated to the secondary antibody, followed by DAB staining. This data demonstrates the use of this antibody for immunohistochemistry; clinical relevance has not been evaluated.)

Flow Cytometry (FC/FACS)

(Flow cytometric analysis of 293 cells using GDF6 Antibody (C-term)(bottom histogram) compared to a negative control cell (top histogram). FITC-conjugated goat-anti-rabbit secondary antibodies were used for the analysis.)

Product Categories/Family for anti-GDF6 antibody

Antibodies; Growth Factors; Cytokines

References

1. Tassabehji M., Fang Z.M.Hum. Mutat. 29:1017-1027(2008).

NCBI and Uniprot Product Information

• NCBI GI #: 48475062
• NCBI GeneID: 392255
• NCBI Accession #: NP_001001557
• NCBI GenBank Nucleotide #: NM_001001557.2
• UniProt Accession #: Q6KF10; Q6PI58
• Molecular Weight: 50,662 Da
• NCBI Official Full Name: growth/differentiation factor 6
• NCBI Official Synonym Full Names: growth differentiation factor 6
• NCBI Official Symbol: GDF6
• NCBI Official Synonym Symbols: KFM; KFS; KFS1; KFSL; SGM1; BMP13; CDMP2; LCA17; MCOP4; SCDO4; BMP-13; MCOPCB6
• NCBI Protein Information: growth/differentiation factor 6; GDF-6; Klippel-Feil syndrome; Klip-Feil malformation; Klippel-Feil malformation; bone morphogenetic protein 13; growth/differentiation factor 16
• UniProt Protein Name: Growth/differentiation factor 6
• Protein Family: Growth/differentiation factor
• UniProt Gene Name: GDF6
• UniProt Synonym Gene Names: GDF16; GDF-6
• UniProt Entry Name: GDF6_HUMAN

NCBI Description

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]

Uniprot Description

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: Secreted; Secreted, signal peptide; Cytokine; Cell development/differentiation

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: BMP signaling pathway; regulation of apoptosis; apoptosis; positive regulation of transcription, DNA-dependent; regulation of MAPKKK cascade; 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