Gene Symbol | CDK5RAP2 |
Entrez Gene ID | 55755 |
Full Name | CDK5 regulatory subunit associated protein 2 |
Synonyms | C48,Cep215,MCPH3 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Microcephaly 3, primary, autosomal recessive, 604804 (3) |