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Product Name CCBE1 Chinese Name Collagen protein和钙结合表皮生长因子结构域1抗体 Alias CCBE 1; ccbe1; CCBE1_HUMAN; Collagen and calcium binding EGF domain containing protein 1; Collagen and calcium binding EGF domains 1; Collagen and calcium-binding EGF domain-containing protein 1; Full of fluid protein homolog. Research Area Cell biology immunology Growth factors and hormones Immunogen Species Rabbit Clonality Polyclonal React Species Mouse, (predicted: Human, Rat, Dog, Pig, Horse, ) Applications WB=1:500-2000 ELISA=1:5000-10000 IHC-P=1:100-500 IHC-F=1:100-500 IF=1:100-500 (Paraffin sections need antigen repair)
not yet tested in other applications.
optimal dilutions/concentrations should be determined by the end user.Theoretical molecular weight 41kDa Cellular localization Secretory protein Form Liquid Concentration 1mg/ml immunogen KLH conjugated synthetic peptide derived from human CCBE1: 201-300/406 Lsotype IgG Purification affinity purified by Protein A Buffer Solution 0.01M TBS(pH7.4) with 1% BSA, 0.03% Proclin300 and 50% Glycerol. Storage Shipped at 4℃. Store at -20 °C for one year. Avoid repeated freeze/thaw cycles. Attention This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications. PubMed PubMed Product Detail This gene is thought to function in extracellular matrixremodeling and migration. It is predominantly expressed in theovary, but down regulated in ovarian cancer cell lines and primarycarcinomas, suggesting its role as a tumour suppressor. Mutationsin this gene have been associated with Hennekamlymphangiectasia-lymphedema syndrome, a generalized lymphaticdysplasia in humans. [provided by RefSeq, Mar 2010].
Function:
Required for lymphangioblast budding and angiogenicsprouting from venous endothelium during embryogenesis.
Subcellular Location:
Secreted (Potential).
DISEASE:
Defects in CCBE1 are the cause of Hennekamlymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]. HLLS is ageneralized lymph-vessels dysplasia characterized by intestinallymphangiectasia with severe lymphedema of the limbs, genitalia andface. In addition, affected individuals have unusual facies andsevere mental retardation.
Similarity:
Belongs to the CCBE1 family.Contains 1 EGF-like domain.
SWISS:
Q6UXH8
Gene ID:
147372
Database links:Entrez Gene: 147372 Human
Omim: 612753 Human
SwissProt: Q6UXH8 Human
Unigene: 34333 Human
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