NP_597716.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
22,600 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
CCBE1: Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. Defects in CCBE1 are the cause of Hennekam lymphangiectasia-lymphedema syndrome (HLLS). HLLS is 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. Belongs to the CCBE1 family. 3 isoforms of the human protein are produced by alternative splicing.
Protein type: Secreted, signal peptide; Secreted
Chromosomal Location of Human Ortholog: 18q21.32
Cellular Component: extracellular space; proteinaceous extracellular matrix; collagen
Molecular Function: collagen binding; protease binding; calcium ion binding
Biological Process: positive regulation of angiogenesis; venous blood vessel morphogenesis; lymphangiogenesis; sprouting angiogenesis
Disease: Hennekam Lymphangiectasia-lymphedema Syndrome 1
Research Articles on CCBE1
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Products associated with CCBE1 elisa kit
Diseases associated with CCBE1 elisa kit
Organs/Tissues associated with CCBE1 elisa kit
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