title: What's the hype about CDK5RAP2?
abstract: Cyclin dependent kinase 5 regulatory subunit-associated protein 2 (CDK5RAP2) has gained attention in the last years following the discovery, in 2005, that recessive mutations cause primary autosomal recessive microcephaly. This disease is seen as an isolated developmental defect of the brain, particularly of the cerebral cortex, and was thus historically also referred to as microcephalia vera. Unraveling the pathomechanisms leading to this human disease is fascinating scientists because it can convey insight into basic mechanisms of physiologic brain development (particularly of cortex formation). It also finds itself in the spotlight because of its implication in trends in mammalian evolution with a massive increase in the size of the cerebral cortex in primates. Here, we provide a timely overview of the current knowledge on the function of CDK5RAP2 and mechanisms that might lead to disease in humans when the function of this protein is disturbed.
authors.affiliation: Department of Pediatric Neurology, Charité, Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augustenburger Platz 1, 13353, Berlin, Germany.
authors.forename: Nadine
authors.initials: N
authors.lastname: Kraemer
authors.forename: Lina
authors.initials: L
authors.lastname: Issa
authors.forename: Stefanie C R
authors.initials: SC
authors.lastname: Hauck
authors.forename: Shyamala
authors.initials: S
authors.lastname: Mani
authors.forename: Olaf
authors.initials: O
authors.lastname: Ninnemann
authors.forename: Angela M
authors.initials: AM
authors.lastname: Kaindl
mesh_terms: D018797:Cell Cycle Proteins; D002502:Centrioles / Q000378:metabolism; D055785:Gene Knockdown Techniques; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D008831:Microcephaly / Q000235:genetics / Q000473:pathology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D020033:Protein Isoforms / Q000737:chemistry / Q000235:genetics / Q000378:metabolism; D014404:Tubulin / Q000737:chemistry / Q000378:metabolism
chemical_list: C405929:CDK5RAP2 protein, human; D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D009419:Nerve Tissue Proteins; D020033:Protein Isoforms; D014404:Tubulin