External Ids for SEPTIN8 Gene
Previous HGNC Symbols for SEPTIN8 Gene
This gene is a member of the septin family of nucleotide binding proteins, originally described in yeast as cell division cycle regulatory proteins. Septins are highly conserved in yeast, Drosophila, and mouse, and appear to regulate cytoskeletal organization. Disruption of septin function disturbs cytokinesis and results in large multinucleate or polyploid cells. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
GeneCards Summary for SEPTIN8 Gene
SEPTIN8 (Septin 8) is a Protein Coding gene. Diseases associated with SEPTIN8 include Sexual Disorder and Impotence. 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 SEPTIN8 Gene
Filament-forming cytoskeletal GTPase (By similarity). May play a role in platelet secretion (PubMed:15116257). Seems to participate in the process of SNARE complex formation in synaptic vesicles (By similarity).
[Isoform 4]: Stabilizes BACE1 protein levels and promotes the sorting and accumulation of BACE1 to the recycling or endosomal compartments, modulating the beta-amyloidogenic processing of APP.