CEP57 centrosomal protein 57
Gene ID: 9702, updated on 19-Sep-2024Gene type: protein coding
Also known as: MVA2; PIG8; TSP57
- See all available tests in GTR for this gene
- Go to complete Gene record for CEP57
- Go to Variation Viewer for CEP57 variants
Summary
This gene encodes a cytoplasmic protein called Translokin. This protein localizes to the centrosome and has a function in microtubular stabilization. The N-terminal half of this protein is required for its centrosome localization and for its multimerization, and the C-terminal half is required for nucleating, bundling and anchoring microtubules to the centrosomes. This protein specifically interacts with fibroblast growth factor 2 (FGF2), sorting nexin 6, Ran-binding protein M and the kinesins KIF3A and KIF3B, and thus mediates the nuclear translocation and mitogenic activity of the FGF2. It also interacts with cyclin D1 and controls nucleocytoplasmic distribution of the cyclin D1 in quiescent cells. This protein is crucial for maintaining correct chromosomal number during cell division. Mutations in this gene cause mosaic variegated aneuploidy syndrome, a rare autosomal recessive disorder. Multiple alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Genetics of rheumatoid arthritis contributes to biology and drug discovery. GeneReviews: Not available | |
Mosaic variegated aneuploidy syndrome 2 | See labs |
Genomic context
- Location:
- 11q21
- Sequence:
- Chromosome: 11; NC_000011.10 (95790498..95832693)
- Total number of exons:
- 14
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | Variation Viewer for CEP57 variants |
Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- CEP57 @ 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
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.