CDK5RAP2, CEP215, KIAA1633, CDK5 regulatory subunit-associated protein 2, CDK5 activator-binding protein C48, Centrosome-associated protein 215
This gene encodes a regulator of CDK5 (cyclin-dependent kinase 5) activity. The protein encoded by this gene is localized to the centrosome and Golgi complex, interacts with CDK5R1 and pericentrin (PCNT), plays a role in centriole engagement and microtubule nucleation, and has been linked to primary microcephaly and Alzheimers disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013],disease:Defects in CDK5RAP2 are the cause of primary microcephaly autosomal recessive type 3 (MCPH3) [MIM:604804]. Microcephaly is 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.,function:Potential regulator of CDK5 activity via its interaction with CDK5R1.,miscellaneous:The sequence shown here is derived from an EMBL/GenBank/DDBJ third party annotation (TPA) entry.,PTM:Phosphorylated in vitro by CDK5.,sequence caution:Translated as Gln.,subunit:Interacts with CDK5R1 (p35 form). CDK5RAP1, CDK5RAP2 and CDK5RAP3 show competitive binding to CDK5R1. Probably forms a complex with CDK5R1 and CDK5.,tissue specificity:Widely expressed. Expressed in heart, brain, placenta, lung, liver, skeletal muscle, kidney and pancreas.,
