5-Sep

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5-Sep

A gene on chromosome 22q11.21 that encodes septin 5, a member of the septin family of nucleotide-binding proteins, which regulate cytoskeletal organisation; their disruption alters cytokinesis and results in multinucleated giant cells.

Molecular pathology
SEPT5 maps to 22q11, the same region that is deleted in DiGeorge and velocardiofacial syndrome. Translocation involving SEPT5 and MLL may occur in patients with acute myeloid leukaemia.