Mtcl1, or microtubule cross-linking factor 1, is a protein-coding gene. It is crucial for microtubule organization, participating in various biological processes such as neuronal function, cell polarity establishment, and chromosome segregation. It is associated with pathways like Wnt/β-catenin in cancer development [1]. Genetic models, especially knockout mouse models, are valuable for studying its functions.

In vivo knockdown of Mtcl1 in cerebellar Purkinje cells causes loss of axonal polarity and AnkG mislocalization, indicating its role in maintaining the axon initial segment [2]. Mtcl1 gene disruption in mice results in abnormal motor coordination with Purkinje cell degeneration, suggesting its possible involvement in spinocerebellar ataxia [2]. In human cells, knockdown of its related protein SOGA2/MTCL1 shows that it is required for faithful chromosome segregation [3]. In laryngeal squamous cell carcinoma, circular RNA MTCL1 (circMTCL1) promotes tumor progression by inhibiting C1QBP ubiquitin degradation and activating Wnt/β-catenin signaling [1]. In Hirschsprung's disease, Circ-MTCL1 regulates cell proliferation and migration by sponging miR-145-5p to target SMAD3 [4].

In conclusion, Mtcl1 plays essential roles in maintaining neuronal axon structure, ensuring accurate chromosome segregation, and is involved in cancer and congenital disorder development. The use of gene knockout mouse models has significantly contributed to understanding its functions in these disease-related biological processes.