External Ids for SEPT6 Gene
Previous GeneCards Identifiers for SEPT6 Gene
This gene is a member of the septin family of GTPases. Members of this family are required for cytokinesis. One version of pediatric acute myeloid leukemia is the result of a reciprocal translocation between chromosomes 11 and X, with the breakpoint associated with the genes encoding the mixed-lineage leukemia and septin 2 proteins. This gene encodes four transcript variants encoding three distinct isoforms. An additional transcript variant has been identified, but its biological validity has not been determined. [provided by RefSeq, Jul 2008]
GeneCards Summary for SEPT6 Gene
SEPT6 (Septin 6) is a Protein Coding gene. Diseases associated with SEPT6 include Sexual Disorder and Leukemia, Acute Myeloid. Among its related pathways are Bacterial invasion of epithelial cells. GO annotations related to this gene include GTP binding. An important paralog of this gene is SEPT11.
UniProtKB/Swiss-Prot for SEPT6 Gene
Filament-forming cytoskeletal GTPase. Required for normal organization of the actin cytoskeleton. Involved in cytokinesis. May play a role in HCV RNA replication. Forms a filamentous structure with SEPT12, SEPT6, SEPT2 and probably SEPT4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).