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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for CCBE1 (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID147372
Official gene symbolCCBE1
Full namecollagen and calcium binding EGF domains 1
Aliases,FLJ30681,MGC50861,
Gene summaryThis 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]
LocationChromosome: 18   Locus: 18q21.32
Gene position57364644 - 57098171  Map Viewer
Gene orientationminus
Gene size266474 bp
Gene sequence
OMIM ID612753