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CASC5
cancer susceptibility candidate 5
CASC5 is a component of the multiprotein assembly that is required for creation of kinetochore-microtubule attachments and chromosome segregation. The encoded protein functions as a scaffold for proteins that influence the spindle assembly checkpoint during the eukaryotic cell cycle and it interacts with at least five different kinetochore proteins and two checkpoint kinases. In adults, this gene is predominantly expressed in normal testes, various cancer cell lines and primary tumors from other tissues and is ubiquitously expressed in fetal tissues. This gene was originally identified as a fusion partner with the mixed-lineage leukemia (MLL) gene in t(11;15)(q23;q14). Mutations in this gene cause autosomal recessive primary microcephaly-4 (MCPH4). Alternative splicing results in multiple transcript variants encoding different isoforms. Additional splice variants have been described but their biological validity has not been confirmed.
| Gene Name: | cancer susceptibility candidate 5 |
| Synonyms: | CASC5, AF15Q14, Blinkin, CT29, Cancer/testis antigen 29, D40, HSpc105, KIAA1570, Kinetochore-null protein 1, KNL1, MCPH4, PPP1R55, Kinetochore null 1 homolog, Protein CASC5, Protein D40/AF15q14, HKNL-1 |
| Target Sequences: | AF248041 NP_733468.3 Q8NG31 |
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