Aliases for SEPTIN5 Gene
External Ids for SEPTIN5 Gene
Previous HGNC Symbols for SEPTIN5 Gene
This gene is a member of the septin gene 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. This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. A translocation involving the MLL gene and this gene has also been reported in patients with acute myeloid leukemia. Alternative splicing results in multiple transcript variants. The presence of a non-consensus polyA signal (AACAAT) in this gene also results in read-through transcription into the downstream neighboring gene (GP1BB; platelet glycoprotein Ib), whereby larger, non-coding transcripts are produced. [provided by RefSeq, Dec 2010]
GeneCards Summary for SEPTIN5 Gene
SEPTIN5 (Septin 5) is a Protein Coding gene. Diseases associated with SEPTIN5 include Digeorge Syndrome and Amyotrophic Neuralgia. Among its related pathways are Chks in Checkpoint Regulation and Pathways of neurodegeneration - multiple diseases. An important paralog of this gene is SEPT5-GP1BB.
UniProtKB/Swiss-Prot Summary for SEPTIN5 Gene
Filament-forming cytoskeletal GTPase (By similarity). May play a role in cytokinesis (Potential). May play a role in platelet secretion (By similarity).