• Source: Cytoskeleton associated protein 2 like

Cytoskeleton associated protein 2 like is a protein that in humans is encoded by the CKAP2L gene.




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].




References






Further reading



This article incorporates text from the United States National Library of Medicine, which is in the public domain.

Kata Kunci Pencarian:

• Sistem imun
• Sitoskeleton prokariotik
• Titin
• Arkea
• Bakteri
• Fungi
• Cytoskeleton associated protein 2 like
• Cytoskeleton
• Activity-regulated cytoskeleton-associated protein
• Chromosome 2
• Microtubule-associated protein
• Motor protein
• Transforming protein RhoA
• Tight junction protein ZO-1
• Calponin 2
• Wiskott–Aldrich syndrome protein