Aliases for SEPTIN9 Gene
External Ids for SEPTIN9 Gene
Previous HGNC Symbols for SEPTIN9 Gene
This gene is a member of the septin family involved in cytokinesis and cell cycle control. This gene is a candidate for the ovarian tumor suppressor gene. Mutations in this gene cause hereditary neuralgic amyotrophy, also known as neuritis with brachial predilection. A chromosomal translocation involving this gene on chromosome 17 and the MLL gene on chromosome 11 results in acute myelomonocytic leukemia. Multiple alternatively spliced transcript variants encoding different isoforms have been described.[provided by RefSeq, Mar 2009]
GeneCards Summary for SEPTIN9 Gene
SEPTIN9 (Septin 9) is a Protein Coding gene. Diseases associated with SEPTIN9 include Amyotrophy, Hereditary Neuralgic and Brachial Plexus Neuropathy. Among its related pathways are ERK Signaling and Bacterial invasion of epithelial cells. An important paralog of this gene is SEPTIN3.
UniProtKB/Swiss-Prot Summary for SEPTIN9 Gene
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in the internalization of 2 intracellular microbial pathogens, Listeria monocytogenes and Shigella flexneri.