Function
Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.
Biological Context
Subcellular Location: Secreted
Tissue Specificity: Detected in fibroblasts and urine (at protein level). Not expressed in blood or lymphatic endothelial cells
Disease Association: Hennekam lymphangiectasia-lymphedema syndrome 1 (HKLLS1) : A form of Hennekam lymphangiectasia-lymphedema syndrome, 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 some manifest intellectual disability. HKLLS1 inheritance is autosomal recessive. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Collagen and calcium-binding EGF domain-containing protein 1 (CCBE1), partial is a recombinant protein from Homo sapiens (Human), expressed in Mammalian cell, covering amino acids 159-250aa, with C-terminal hFc1-tagged tag, molecular weight 39.0kDa, purity Greater than 95% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Growth Factor proteins →
