Cytoskeleton associated protein 2 like explained
Cytoskeleton associated protein 2 like is a protein that in humans is encoded by the CKAP2L gene.[1]
Function
The protein encoded by this gene is thought to be a mitotic spindle protein important to neural stem or progenitor cells. Mutations in this gene have been associated with spindle organization defects, including mitotic spindle defects, lagging chromosomes, and chromatin bridges. There is evidence that mutations in this gene are associated with Filippi syndrome, characterized by growth defects, microcephaly, intellectual disability, facial feature defects, and syndactyly. There is a pseudogene of this gene on chromosome 20. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2015].
Further reading
- Fiebig A, Jepsen S, Loos BG, Scholz C, Schäfer C, Rühling A, Nothnagel M, Eickholz P, van der Velden U, Schenck K, Schreiber S, Grössner-Schreiber B . Polymorphisms in the interleukin-1 (IL1) gene cluster are not associated with aggressive periodontitis in a large Caucasian population . Genomics . 92 . 5 . 309–15 . November 2008 . 18723088 . 10.1016/j.ygeno.2008.07.004 .
- Dick DM, Meyers J, Aliev F, Nurnberger J, Kramer J, Kuperman S, Porjesz B, Tischfield J, Edenberg HJ, Foroud T, Schuckit M, Goate A, Hesselbrock V, Bierut L . Evidence for genes on chromosome 2 contributing to alcohol dependence with conduct disorder and suicide attempts . Am. J. Med. Genet. B Neuropsychiatr. Genet. . 153B . 6 . 1179–88 . September 2010 . 20468071 . 3597340 . 10.1002/ajmg.b.31089 .
- Yumoto T, Nakadate K, Nakamura Y, Sugitani Y, Sugitani-Yoshida R, Ueda S, Sakakibara S . Radmis, a novel mitotic spindle protein that functions in cell division of neural progenitors . PLOS ONE . 8 . 11 . e79895 . 2013 . 24260314 . 3832648 . 10.1371/journal.pone.0079895 . 2013PLoSO...879895Y . free .
Notes and References
- Web site: Entrez Gene: Cytoskeleton associated protein 2 like. 2018-05-24.
