NP_597716.1
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
44,103 Da
NCBI Official Full Name
collagen and calcium-binding EGF domain-containing protein 1
NCBI Official Synonym Full Names
collagen and calcium binding EGF domains 1
NCBI Protein Information
collagen and calcium-binding EGF domain-containing protein 1; full of fluid protein homolog
UniProt Protein Name
Collagen and calcium-binding EGF domain-containing protein 1
UniProt Synonym Protein Names
Full of fluid protein homolog
UniProt Synonym Gene Names
UniProt Entry Name
CCBE1_HUMAN
NCBI Summary for ccbe1
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]
UniProt Comments for ccbe1
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.
Product References and Citations for anti-ccbe1 antibody
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
Research Articles on ccbe1
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Products associated with anti-ccbe1 antibody
Diseases associated with anti-ccbe1 antibody
Organs/Tissues associated with anti-ccbe1 antibody
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