Required for normal spindle assembly (PubMed:21406398, PubMed:21983783, PubMed:26297806, PubMed:35793002). Plays a key role in mother-centriole-dependent centriole duplication; the function seems also to involve CEP152, CDK5RAP2 and WDR62 through a stepwise assembled complex at the centrosome that recruits CDK2 required for centriole duplication (PubMed:21983783, PubMed:26297806). Reported to be required for centrosomal recruitment of CEP152; however, this function has been questioned (PubMed:21983783, PubMed:26297806). Also recruits CDK1 to centrosomes (PubMed:21406398). Plays a role in DNA damage response (PubMed:21406398). Following DNA damage, such as double-strand breaks (DSBs), is removed from centrosomes; this leads to the inactivation of spindle assembly and delay in mitotic progression (PubMed:21406398). Promotes stabilization of FXR1 protein by inhibiting FXR1 ubiquitination (PubMed:35989368).
Seckel syndrome 6
SCKL6
A rare autosomal recessive disorder characterized by proportionate dwarfism of prenatal onset associated with low birth weight, growth retardation, severe microcephaly with a bird-headed like appearance, and intellectual disability.
None
The disease is caused by variants affecting the gene represented in this entry.
Polyubiquitinated via 'Lys-48'-linked ubiquitin, leading to its degradation (PubMed:35989368). Deubiquitinated by USP36, promoting its stabilization (PubMed:35989368).
Belongs to the CEP63 family.
Centrosomal protein of 63 kDa, Cep63, CEP63
Proteins
Cardiovascular
81344Da
We found 1 product in 1 category