CKAP2L gene

cytoskeleton associated protein 2 like

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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]

From UniProt:

Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.

From NCBI Gene:

  • Filippi syndrome

From UniProt:

Filippi syndrome (FLPIS): A rare disorder characterized by microcephaly, pre- and postnatal growth failure, syndactyly, and distinctive facial features, including a broad nasal bridge and underdeveloped alae nasi. Some affected individuals have intellectual disability, seizures, undescended testicles in males, and teeth and hair abnormalities. [MIM:272440]

Cytogenetic Location: 2q13, which is the long (q) arm of chromosome 2 at position 13

Molecular Location: base pairs 112,736,349 to 112,764,677 on chromosome 2 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 2q13, which is the long (q) arm of chromosome 2 at position 13