Recombinant Human Growth/differentiation factor 6 (GDF6)

Code
MSDS
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Source
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Product Details

Purity
>85% (SDS-PAGE)
Target Names
GDF6
Uniprot NO.
Species
Homo sapiens (Human)
Source
Yeast
Expression Region
336-455
Target Protein Sequence
TAFAS RHGKRHGKKS RLRCSKKPLH VNFKELGWDD WIIAPLEYEA YHCEGVCDFP LRSHLEPTNH AIIQTLMNSM DPGSTPPSCC VPTKLTPISI LYIDAGNNVV YKQYEDMVVE SCGCR
Protein Length
Full Length of Mature Protein
Tag Info
N-terminal His-tagged/Tag-Free
Storage
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Shelf Life
The shelf life is related to many factors, storage state, buffer ingredients, storage temperature and the stability of the protein itself.
Generally, the shelf life of liquid form is 6 months at -20°C/-80°C. The shelf life of lyophilized form is 12 months at -20°C/-80°C.
Notes
Repeated freezing and thawing is not recommended. Store working aliquots at 4°C for up to one week.
Description

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Target Background

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.
Gene References into Functions
  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. PMID:26643732
  2. 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
  3. BMP13 has a role in enhancing extracellular matrix accumulation and inducing cell migration in certain intervertebral disc cells PMID:26134557
  4. GDF6 is overexpressed in Leri's pleonosteosis. PMID:24442880
  5. 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
  6. Deficiency of gdf6 results in photoreceptor degeneration, so demonstrating a connection between Gdf6 signaling and photoreceptor survival. PMID:23307924
  7. 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
  8. 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
  9. induces ligamentogenic differentiation in mesenchymal progenitors PMID:20334610
  10. Observational study of gene-disease association. (HuGE Navigator) PMID:20734064
  11. These data suggest a potential role for BMP-13 (the human homologue to GDF-6) in tendon matrix modeling and/or remodeling. PMID:19492402
  12. Observational study of gene-disease association. (HuGE Navigator) PMID:20494911
  13. 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
  14. 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
  15. These data establish the important role of growth differentiation factor 6 in ocular and vertebral development. PMID:19129173
  16. 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
  17. Observational study of gene-disease association. (HuGE Navigator) PMID:20057906
  18. Observational study of gene-disease association. (HuGE Navigator) PMID:18716610

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Subcellular Location
Secreted.
Protein Families
TGF-beta family
Database Links

HGNC: 4221

UNIGENE: Hs.492277

KEGG: hsa:392255

STRING: 9606.ENSP00000287020

OMIM: 118100

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