Septin-6 is a member of the septin family of GTPases, which are essential for various cellular processes, including cytokinesis, cell polarity, and cytoskeletal organization . Septins are evolutionarily conserved proteins found in a wide range of eukaryotic organisms, from yeast to humans . They play crucial roles in maintaining cellular structure and function by forming filamentous structures that interact with other cytoskeletal components .
Septin-6, like other septins, can form hetero-oligomeric complexes and filaments that are involved in various cellular processes . These filaments can act as diffusion barriers and scaffolds for other proteins, thereby regulating the spatial organization of cellular components . Septin-6 is particularly important for the normal organization of the actin cytoskeleton and is involved in cytokinesis . It has also been implicated in the regulation of dendritic branch points and the bases of protrusions in neurons .
The septin family, including Septin-6, is essential for cytokinesis, the process by which a cell divides its cytoplasm to form two daughter cells . In addition to its role in cell division, Septin-6 is involved in various other biological processes such as spermatogenesis, exocytosis, ciliogenesis, phagocytosis, motility, and apoptosis . Alterations in the expression or function of septins, including Septin-6, have been linked to several diseases, including neurological disorders and cancers .
Septin-6 has been associated with certain types of leukemia, particularly pediatric acute myeloid leukemia, where it acts as a fusion partner with the mixed-lineage leukemia (MLL) gene . This fusion results from a reciprocal translocation between chromosomes 11 and X . Additionally, Septin-6 has been implicated in non-syndromic X-linked intellectual disability and breast scirrhous carcinoma .