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FLASH GENE
Symbol CCBE1 contributors: mct/npt/pgu - updated : 14-10-2014
HGNC name collagen and calcium binding EGF domains 1
HGNC id 29426
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
  • a signal peptide
  • a collagen domain
  • a calcium-binding EGF domain
  • HOMOLOGY
    Homologene
    FAMILY
  • CCBE1 family
  • CATEGORY regulatory
    SUBCELLULAR LOCALIZATION extracellular
    basic FUNCTION
  • having an indispensible role for embryonic lymphangiogenesis
  • acting at the same stage of development as VEGFC and required for lymphangioblast budding and angiogenic sprouting from venous endothelium
  • acting nonautonomously during embryonic lymphangiogenesis
  • might be involved in guidance of the lymphatic vessel migrating cells
  • is potentially essential but not sufficient for lymphangiogenesis
  • plays an essential role in regulating the fetal liver erythropoietic environment
  • is a crucial component of the VEGFC/FLT4 pathway in the embryo
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) HLLS
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    miscelleaneousvascular 
    is a potential therapeutic tool for the modulation of lymphangiogenesis and angiogenesis in a variety of diseases that involve the lymphatic system, such as lymphedema or lymphatic metastasis
    ANIMAL & CELL MODELS
  • loss of Ccbe1 also confers severe anemia in midgestation mouse embryos due to defective definitive erythropoiesis