MTCL1, also known as microtubule cross-linking factor 1, is a protein-coding gene that plays a crucial role in microtubule organization and stabilization. It is involved in various cellular processes such as cell polarity establishment, chromosome segregation, and axon initial segment maintenance [1,2,3,4]. MTCL1-related pathways may include those related to neuronal function, cell division, and epithelial cell polarity. Understanding its function is important for clarifying normal cellular functions and related disease mechanisms, and genetic models like KO mouse models can be valuable tools for such studies.

In KO mouse models, disruption of the Mtcl1 gene leads to abnormal motor coordination along with Purkinje cell degeneration, suggesting its possible involvement in the pathogenesis of spinocerebellar ataxia [1]. In a human study, a novel homozygous MTCL1 loss-of-function variant was found in a patient with slowly progressive cerebellar ataxia, mild intellectual disability, childhood seizures, and episodic lower-limb pain, proposing MTCL1 as a candidate gene for autosomal recessive cerebellar ataxia [5].

In conclusion, MTCL1 is essential for maintaining microtubule-related cellular functions. The study of Mtcl1 KO mouse models and human cases with MTCL1 loss-of-function variants has provided insights into its role in spinocerebellar ataxia and other related neurological conditions, highlighting its significance in understanding the pathogenesis of these diseases.