CDK5RAP2 Antibody – Rabbit Polyclonal

CDK5RAP2: Potential regulator of CDK5 activity via its interaction with CDK5R1. Negative regulator of centriole disengagement (licensing) which maintains centriole engagement and cohesion. Involved in regulation of mitotic spindle orientation. Plays a role in the spindle checkpoint activation by acting as a transcriptional regulator of both BUBR1 and MAD2 promoter. Together with MAPRE1, it may promote microtubule polymerization, bundle formation, growth and dynamics at the plus ends. Defects in CDK5RAP2 are the cause of microcephaly primary type 3 (MCPH3). A disorder defined as a head circumference more than 3 standard deviations below the age- related mean. Brain weight is markedly reduced and the cerebral cortex is disproportionately small. Despite this marked reduction in size, the gyral pattern is relatively well preserved, with no major abnormality in cortical architecture. Primary microcephaly is further defined by the absence of other syndromic features or significant neurological deficits. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Cytoskeletal

Chromosomal Location of Human Ortholog: 9q33.2

Cellular Component: Golgi apparatus; spindle pole; centrosome; microtubule; pericentriolar material; cytoskeleton; perinuclear region of cytoplasm; cytoplasm; cell junction; cytosol

Molecular Function: calmodulin binding; tubulin binding; protein binding; microtubule binding; protein kinase binding

Biological Process: regulation of neuron differentiation; positive regulation of transcription, DNA-dependent; organelle organization and biogenesis; microtubule cytoskeleton organization and biogenesis; negative regulation of centriole replication; chromosome segregation; negative regulation of neuron differentiation; establishment of mitotic spindle orientation; neurogenesis; centrosome organization and biogenesis; mitotic cell cycle; brain development; G2/M transition of mitotic cell cycle; microtubule bundle formation

Disease: Microcephaly 3, Primary, Autosomal Recessive