The cdk5r1 gene encodes p35, a neuron-specific activator protein for the cyclin-dependent kinase 5 (Cdk5) complex. This cytoplasmic and membrane-associated regulatory subunit is required for activating...[+]

The cdk5r1 gene encodes p35, a neuron-specific activator protein for the cyclin-dependent kinase 5 (Cdk5) complex. This cytoplasmic and membrane-associated regulatory subunit is required for activating the Cdk5 kinase, which phosphorylates downstream targets. Its functions are associated with neuronal development and differentiation processes within the brain, spinal cord, and retina. It influences cytoskeletal dynamics through phosphorylation of neurofilament and microtubule-associated proteins, contributing to proper neural tube closure, neurite outgrowth, and neuronal migration. [-]

ClinVar, ClinGen, MalaCards, KEGG Disease, DECIPHER, COSMIC, MARRVEL, GTR, DisGeNET, dbVAR, GHR, gnomAD