Recombinant Human GDF6 Protein
Beta LifeScience
SKU/CAT #: BLA-0278P
Recombinant Human GDF6 Protein
Beta LifeScience
SKU/CAT #: BLA-0278P
Our products are highly customizable to meet your specific needs. You can choose options such as endotoxin removal, liquid or lyophilized forms, preferred tags, and the desired functional sequence range for proteins. Submitting a written inquiry expedites the quoting process.
Product Overview
Host Species | Human |
Accession | Q6KF10 |
Synonym | bmp 13 bmp13 Cartilage Derived Morphogenetic Protein 2 cdmp 2 CDMP2 gdf 6 GDF16 Growth differentiation factor 6 Growth/differentiation factor 16 Growth/differentiation factor 6 KFM KFS KFS1 KFSL Klip Feil malformation Klippel Feil malformation Klippel Feil syndrome LCA17 MCOP4 MCOPCB6 SCDO4 SGM1 |
Description | Recombinant Human GDF6 Protein was expressed in E.coli. It is a Full length protein |
Source | E.coli |
AA Sequence | TAFASRHGKRHGKKSRLRCSKKPLHVNFKELGWDDWIIAPLEYEAYHCEG VCDFPLRSHLEPTNHAIIQTLMNSMDPGSTPPSCCVPTKLTPISILYIDA GNNVVYKQYEDMVVESCGCR |
Molecular Weight | 14 kDa |
Purity | >= 95% SDS-PAGE |
Endotoxin | < 1.0 EU per μg of the protein as determined by the LAL method |
Bioactivity | Determined by its ability to induce alkaline phosphatase production by ATDC-5 cells. The expected ED50 for this effect is 2.0-3.0 µg/ml. |
Formulation | Lyophilised |
Stability | The recombinant protein samples are stable for up to 12 months at -80°C |
Reconstitution | See related COA |
Unit Definition | For Research Use Only |
Storage Buffer | Shipped at 4°C. Store at +4°C short term (1-2 weeks). Upon delivery aliquot. Store at -20°C or -80°C. Avoid freeze / thaw cycle. |
Target Details
Target Function | Growth factor that controls proliferation and cellular differentiation in the retina and bone formation. Plays a key role in regulating apoptosis during retinal development. Establishes dorsal-ventral positional information in the retina and controls the formation of the retinotectal map. Required for normal formation of bones and joints in the limbs, skull, digits and axial skeleton. Plays a key role in establishing boundaries between skeletal elements during development. Regulation of GDF6 expression seems to be a mechanism for evolving species-specific changes in skeletal structures. Seems to positively regulate differentiation of chondrogenic tissue through the growth factor receptors subunits BMPR1A, BMPR1B, BMPR2 and ACVR2A, leading to the activation of SMAD1-SMAD5-SMAD8 complex. The regulation of chondrogenic differentiation is inhibited by NOG. Also involved in the induction of adipogenesis from mesenchymal stem cells. This mechanism acts through the growth factor receptors subunits BMPR1A, BMPR2 and ACVR2A and the activation of SMAD1-SMAD5-SMAD8 complex and MAPK14/p38. |
Subcellular Location | Secreted. |
Protein Families | TGF-beta family |
Database References | |
Associated Diseases | Klippel-Feil syndrome 1, autosomal dominant (KFS1); Microphthalmia, isolated, 4 (MCOP4); Leber congenital amaurosis 17 (LCA17) |
Gene Functions References
- 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. PMID: 26643732
- As fetal age increased, the expression of growth differentiation factor 6 was decreased correspondingly with the progress of ossification in vertebral bodies and restricted to cartilaginous regions. PMID: 26184900
- BMP13 has a role in enhancing extracellular matrix accumulation and inducing cell migration in certain intervertebral disc cells PMID: 26134557
- GDF6 is overexpressed in Leri's pleonosteosis. PMID: 24442880
- There was a possible weak association between the rs6982567 near GDF6 and polypoidal choroidal vasculopathy in this replication study with an independent Han Chinese cohort. PMID: 25416513
- Deficiency of gdf6 results in photoreceptor degeneration, so demonstrating a connection between Gdf6 signaling and photoreceptor survival. PMID: 23307924
- a critical role of HTRA1 in the regulation of angiogenesis via TGF-beta signaling and identified GDF6 as a novel disease gene for AMD. PMID: 22049084
- studies show that even though tenogenic (BMP 12 and BMP 13) and osteogenic (BMP2) BMPs bind the same receptors with high affinity they signal much differently and result in differential activation of osteogenic and tenogenic markers PMID: 21702718
- induces ligamentogenic differentiation in mesenchymal progenitors PMID: 20334610
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20734064
- These data suggest a potential role for BMP-13 (the human homologue to GDF-6) in tendon matrix modeling and/or remodeling. PMID: 19492402
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20494911
- The spectrum of disorders generated by morpholino inhibition and the more severe defects (microphthalmia and anophthalmia) observed at higher doses illustrate the key role of GDF6 in ocular development. PMID: 17236135
- Mutation screening of a large and clinically diverse Klippel-Feil syndrome (KFS) cohort has identified GDF6 missense mutations in both familial and sporadic KFS patients. PMID: 18425797
- These data establish the important role of growth differentiation factor 6 in ocular and vertebral development. PMID: 19129173
- BMP-13 inhibited osteogenic differentiation of bone marrow multipotent mesenchymal stromal cells, implying that functional mutations or deficiency of BMP-13 may allow excess bone formation PMID: 19240811
- Observational study of gene-disease association. (HuGE Navigator) PMID: 20057906
- Observational study of gene-disease association. (HuGE Navigator) PMID: 18716610