Centrosomal Protein 63kDa (CEP63) Antibody – Rabbit Polyclonal

This gene encodes a protein with six coiled-coil domains. The protein is localized to the centrosome, a non-membraneous organelle that functions as the major microtubule-organizing center in animal cells. Several alternatively spliced transcript variants have been found, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

CEP63: Required for normal spindle assembly. Maintains centrosome numbers through centrosomal recruitment of CEP152. Also recruits CDK1 to centrosomes. Plays a role in DNA damage response. 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. Defects in CEP63 are the cause of Seckel syndrome type 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 mental retardation. Belongs to the CEP63 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Unknown function

Chromosomal Location of Human Ortholog: 3q22.2

Cellular Component: centriole; spindle pole; centrosome; cytosol

Molecular Function: protein binding

Biological Process: mitosis; cell division; organelle organization and biogenesis; DNA damage checkpoint; DNA damage response, signal transduction; centriole replication; mitotic cell cycle; spindle assembly; G2/M transition of mitotic cell cycle

Disease: Seckel Syndrome 6