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Gene : CEP57 Homo sapiens

Name  ? centrosomal protein 57 Cytological Location  11q21
Brief Description  centrosomal protein 57
Description  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]
  • synonyms:
  • MVA2,
  • Translokin,
  • PIG8,
  • D42054,
  • centrosomal protein 57kDa,
  • HGNC:30794,
  • KIAA0092,
  • uc001pfp.2,
  • CEP57,
  • TSP57,
  • OTTHUMG00000167740,
  • NM_014679,
  • TSP57
  • identifiers:
  • 9702,
  • ENSG00000166037,
  • CEP57

Genome feature

Region: gene ? Length: 42233  
Location: 11:95790461-95832693 Cyto location: 11q21


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Disease

1 Diseases

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3753 SN Ps

5 Cross References

19 Data Sets

2 Homologues

0 Located Features

97 Rna Seq Results