CCBE1, Official Symbol CCBE1provided by HGNC Official Full Name collagen and calcium binding EGF domains 1provided by HGNC Primary source HGNC:HGNC:29426 See related Ensembl:ENSG00000183287 MIM:612753; AllianceGenome:HGNC:29426 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as HKLLS1 Summary 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] Expression Biased expression in ovary (RPKM 14.7), lung (RPKM 5.5) and 8 other tissues See more Orthologs mouse all