TUBB3 and KIF21A in neurodevelopment and disease

Neuronal migration and axon growth guidance require precise control of microtubule dynamics microtubule-based cargo transport. TUBB3 encodes the neuronal-specific β-tubulin isotype III, TUBB3, a component neuronal microtubules expressed throughout life central peripheral neurons. Human pathogenic missense variants result in altered function cause errors either cranial and, to lesser extent, axons, or cortical organization, rarely both. Moreover, human KIF21A , which an anterograde kinesin motor protein that interacts directly with microtubules, alter can phenocopy variants. Here, we review reported variants, resulting phenotypes, corresponding functional studies both wildtype mutant proteins. We summarize evidence that, vitro mouse models, loss-of-function microtubule-kinesin interactions. Lastly, highlight additional might contribute our understanding relationship between specific tubulin isotypes proteins health disease.