CEP57 Antibody – Rabbit Polyclonal

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]

CEP57: Centrosomal protein which may be required for microtubule attachment to centrosomes. May act by forming ring- like structures around microtubules. Mediates nuclear translocation and mitogenic activity of the internalized growth factor FGF2. Defects in CEP57 are the cause of mosaic variegated aneuploidy syndrome type 2 (MVA2). MVA2 is a severe developmental disorder characterized by mosaic aneuploidies, predominantly trisomies and monosomies, involving multiple different chromosomes and tissues. Affected individuals typically present with severe intrauterine growth retardation and microcephaly. Eye anomalies, mild dysmorphism, variable developmental delay, and a broad spectrum of additional congenital abnormalities and medical conditions may also occur. The risk of malignancy is high, with rhabdomyosarcoma, Wilms tumor and leukemia reported in several cases. Belongs to the translokin family. 4 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 11q21

Cellular Component: nucleoplasm; microtubule cytoskeleton; Golgi apparatus; centrosome; microtubule; cytoplasm; nucleus; cytosol

Molecular Function: protein binding; gamma-tubulin binding; protein homodimerization activity; fibroblast growth factor binding; microtubule binding

Biological Process: fibroblast growth factor receptor signaling pathway; protein import into nucleus, translocation; organelle organization and biogenesis; mitotic cell cycle; G2/M transition of mitotic cell cycle; spermatid development; protein homooligomerization

Disease: Mosaic Variegated Aneuploidy Syndrome 2