CKAP2L
Domain
The KEN box is required for the association with the APC/C-Cdh1 complex, ubiquitination and degradation.
Function
Microtubule-associated protein required for mitotic spindle formation and cell-cycle progression in neural progenitor cells.
Involvement in disease
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Post-translational modifications
Ubiquitinated by the anaphase promoting complex/cyclosome (APC/C).
Sequence Similarities
Belongs to the CKAP2 family.
Cellular localization
- Cytoplasm
- Cytoskeleton
- Spindle pole
- Uniformly distributed along each microtubule bundle of spindles in addition to centrioles during mitosis, expression promptly diminishes at interphase.
Alternative names
Cytoskeleton-associated protein 2-like, Radial fiber and mitotic spindle protein, Radmis, CKAP2L