Anti-human ccbe1; Collagen and calcium-binding EGF domain-containing protein 1

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

Chromosome: 18; NC_000018.10 (59430939..59697838, complement). Location: 18q21.32

Polyclonal

Rabbit IgG

Rabbit

Protein A purified

Lyophilized

The lyophilized antibody is stable at room temperature for up to 1 month. The reconstituted antibody is stable for at least two weeks at 2-8 degree C. Frozen aliquots are stable for at least 6 months when stored at -20 degree C. Avoid repeated freeze-thaw cycles!

Manufactured in an ISO 9001:2008 Certified Laboratory.

Small volumes of anti-ccbe1 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.

The lymphatic system comprises a vascular system separate from the cardiovascular system, essential for immune responses, fluid homeostasis and fat absorption. Lymphatic vessels develop in a complex process termed lymphangiogenesis that involves budding, migration and proliferation of lymphatic endothelial progenitor cells. A few genes, such as FLT4, FOXC2 and SOX18, are known to be critically involved in lymph vessel formation in humans. Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing ccbe1, encoding Collagen and Calcium-Binding EGF-domain-1, a secreted protein which is required for embryonic lymphangiogenesis in zebrafish. ccbe1 is not expressed in endothelial cells of lymph vessels, and it may be a component of the extracellular matrix. In zebrafish, ccbe1 expression was observed along the earliest migration routes of endothelial cells that sprout from the posterior cardinal vein and migrate circuitously before developing into lymphatic vessels. ccbe1 might therefore be involved in guidance of these migrating cells.

Western Blot (WB), Immunofluorescence (IF)

IF/IHC: Use 2-10 ug/ml Western Blot: Use 2-5 mg/ml

44,103 Da

collagen and calcium binding EGF domains 1

collagen and calcium-binding EGF domain-containing protein 1; full of fluid protein homolog

Collagen and calcium-binding EGF domain-containing protein 1

KIAA1983??[Similar Products]

CCBE1_HUMAN

This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]

Function: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. Ref.6

Subcellular location: Secreted

Potential.

Tissue specificity: Not expressed in blood or lymphatic endothelial cells. Ref.5

Involvement in disease: Hennekam lymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]: A generalized lymph-vessels dysplasia characterized by intestinal lymphangiectasia with severe lymphedema of the limbs, genitalia and face. In addition, affected individuals have unusual facies and severe mental retardation.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.6 Ref.7

Sequence similarities: Belongs to the CCBE1 family.Contains 2 collagen-like domains.Contains 1 EGF-like domain.

Sequence caution: The sequence BAB85569.1 differs from that shown. Reason: Erroneous initiation.

1. Karpanen T & Alitalo K, Annu Rev Pathol Dis 3, 2008 2. Oliver G & Alitalo K, Annu Rev Cell Dev Biol 21, 2005 3. Cueni LN & Detmar M, J Invest Dermatol 126, 2006 4. Fang J et al, Am J Hum Genet 67, 2000 5. Van Balkom ID et al, Am J Med Genet 112, 2002 6. Bellini C et al, Am J Med Genet. 120A, 2003 7. Hogan BM et al, Nat Genet 41, 2009 8. Maquat LE, Rev Mol Cell Biol 5, 2004 9. Yaniv K et al, Nat Med 12, 2006 10. Küchler AM et al, Curr Biol 16, 2006

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