CCBE1 collagen and calcium binding EGF domains 1
Gene ID: 147372, updated on 10-Oct-2024Gene type: protein coding
Also known as: HKLLS1
- See all available tests in GTR for this gene
- Go to complete Gene record for CCBE1
- Go to Variation Viewer for CCBE1 variants
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]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analysis accounting for environmental factors through propensity-score matching: application to stressful live events in major depressive disorder. GeneReviews: Not available | |
| Genome-wide association analysis demonstrates the highly polygenic character of age-related hearing impairment. GeneReviews: Not available | |
| Hennekam lymphangiectasia-lymphedema syndrome 1 | See labs |
Genomic context
- Location:
- 18q21.32
- Sequence:
- Chromosome: 18; NC_000018.10 (59430939..59697721, complement)
- Total number of exons:
- 12
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CCBE1 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CCBE1 @ LOVD
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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