CKAP2L (Entrez ID: 150468)

Entrez Gene ID 150468
Official Gene Symbol CKAP2L (GeneCards)
Full name cytoskeleton associated protein 2 like
Location 2q14.1
Other ids Vega : OTTHUMG00000131313
MIM : 616174
HGNC : HGNC:26877
Ensembl : ENSG00000169607
Other names None
Summary 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]

Variants

Found 1 variant in this database.