Collagen and Calcium-Binding EGF Domain-Containing Protein

Alternative Names

  • CCBE1
  • KIAA1983
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OMIM Number

612753

NCBI Gene ID

147372

Uniprot ID

Q6UXH8

Length

267,243 bases

No. of Exons

11

No. of isoforms

3

Protein Name

Collagen and Calcium-Binding EGF Domain-Containing Protein 1

Molecular Mass

44103 Da

Amino Acid Count

406

Genomic Location

chr18:59,430,938-59,698,180

Gene Map Locus
18q21.32

Description

The CCBE1 (Collagen and Calcium Binding EGF Domain-Containing Protein 1) gene codes for a protein that is supposed to be involved in extracellular matrix remodeling and migration. Experimental evidence in animal models indicates that this protein is required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis. The gene is expressed primarily in the ovaries. It is also speculated to be a tumor suppressor gene due to the observation of down-regulation of the gene in ovarian cancer cell lines.

Mutations in the CCBE1 gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized congenital lymphatic dysplasia characterized by intestinal and renal lymphangiectasia, dysmorphic facial appearance and intellectual deficit.

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_133459.4:c.223T>AOmanNC_000018.10:g.59480228A>TPathogenicPathogenicHennekam Lymphangiectasia-Lymphedema SyndromeNG_016990.1:g.222185T>A; NM_133459.4:c.223T>A; NP_597716.1:p.Cys75Ser121908250445
NM_133459.4:c.305G>COmanchr18:59469568PathogenicPathogenicHennekam Lymphangiectasia-Lymphedema SyndromeNG_016990.1:g.232845G>C; NM_133459.4:c.305G>C; NP_597716.1:p.Cys102Ser121908251446
NM_133459.4:c.979G>CIraqchr18:59438119PathogenicPathogenicHennekam Lymphangiectasia-Lymphedema SyndromeNG_016990.1:g.264294G>C; NM_133459.4:c.979G>C; NP_597716.1:p.Gly327Arg121908252447
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