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 Alzheimer's disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2013].
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Protein Aliases: CDK5 activator-binding protein C48; CDK5 regulatory subunit-associated protein 2; centrosomal protein 215 kDa; Centrosome-associated protein 215; centrosomin; CEP215; KIAA1633
Gene Aliases: C48; CDK5RAP2; CEP215; KIAA1633; MCPH3
UniProt ID: (Human) Q96SN8
Entrez Gene ID: (Human) 55755