CEP63 centrosomal protein 63
Gene ID: 80254, updated on 3-Apr-2024Gene type: protein coding
Also known as: SCKL6
- See all available tests in GTR for this gene
- Go to complete Gene record for CEP63
- Go to Variation Viewer for CEP63 variants
Summary
This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Genome-wide association analysis identifies 20 loci that influence adult height. GeneReviews: Not available | |
| Seckel syndrome 6 | See labs |
Genomic context
- Location:
- 3q22.2
- Sequence:
- Chromosome: 3; NC_000003.12 (134485724..134782559)
- Total number of exons:
- 26
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CEP63 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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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