Aliases for SEPTIN6 Gene
External Ids for SEPTIN6 Gene
Previous HGNC Symbols for SEPTIN6 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 SEPTIN6 Gene
SEPTIN6 (Septin 6) is a Protein Coding gene. Diseases associated with SEPTIN6 include Amyotrophic Neuralgia and Sexual Disorder. Among its related pathways are Bacterial invasion of epithelial cells and Shigellosis. An important paralog of this gene is SEPTIN11.
UniProtKB/Swiss-Prot Summary for SEPTIN6 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 SEPTIN12, SEPTIN6, SEPTIN2 and probably SEPTIN4 at the sperm annulus which is required for the structural integrity and motility of the sperm tail during postmeiotic differentiation (PubMed:25588830).