9-Sep


9-Sep

A gene on chromosome 17q25 that encodes septin 9, a member of the septin family of nucleotide-binding proteins, which are required for cytokinesis, organisation of submembranous structures, neuronal polarity and vesicle trafficking. SEPT9 is a candidate for ovarian tumour suppressor gene.
Molecular pathology
SEPT9 mutations cause hereditary neuralgic amyotrophy (neuritis with brachial predilection). A translocation between SEPT9 and MLL on chromosome 11 results in acute myelomonocytic leukaemia.