SEPTIN5 - Gene Detail

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Gene Symbol SEPTIN5
Synonyms CDCREL | CDCREL-1 | CDCREL1 | H5 | HCDCREL-1 | PNUTL1 | SEPT5 | Septin-5
Gene Description SEPTIN5, septin 5, is a member of the septin family of GTP-binding proteins involved in exocytosis (PMID: 10321247, PMID: 15355307), and plays a role in neuronal development and function (PMID: 20680483, PMID: 33203136, PMID: 41225651), platelet secretion (PMID: 11880646), and insulin release (PMID: 40108136). A KMT2A-SEPTIN5 fusion has been identified in pediatric (PMID: 23725386) and adult acute myeloid leukemia (PMID: 9600980, PMID: 24932261) and myelodysplastic syndrome (PMID: 35004749).
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