CEP57
Domain
The C-terminal region mediates the interaction with microtubules and is able to nucleate and bundles microtubules in vitro.
The centrosome localization domain (CLD) region mediates the localization to centrosomes and homooligomerization.
Function
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, but that of FGF1.
Involvement in disease
Mosaic variegated aneuploidy syndrome 2
MVA2
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the translokin family.
Tissue Specificity
Ubiquitous.
Cellular localization
- Nucleus
- Cytoplasm
- Cytoplasm
- Cytoskeleton
- Microtubule organizing center
- Centrosome
Alternative names
KIAA0092, TSP57, CEP57, Centrosomal protein of 57 kDa, Cep57, FGF2-interacting protein, Testis-specific protein 57, Translokin