| Septin 4 | |
|---|---|
| Gene Symbol | SEPT4 |
| Full Name | Septin 4 |
| Chromosome | 17q23.2 |
| NCBI Gene ID | 5414 |
| OMIM | 608680 |
| Ensembl ID | ENSG00000154027 |
| UniProt ID | O43276 |
| Associated Diseases | Parkinson's Disease, Cancer, Male Infertility |
{gene_symbol} (Septin {last_digit}) is a member of the septin family of GTP-binding proteins that play essential roles in cytoskeleton organization, cell division, and membrane dynamics. Septins are highly conserved GTPases that form hetero-oligomeric complexes and function as scaffolds and diffusion barriers in cellular compartments.
The septin family consists of 13 members in humans (SEPT1-SEPT12, SEPT14) that assemble into various higher-order structures including filaments, rings, and bundles. {gene_symbol} has been implicated in neurological disorders and neurodegenerative diseases.
SEPT4 (Septin 4) is a member of the septin family of GTP-binding proteins with specialized roles in neuronal function and reproductive system development. SEPT4 (also known as ARIA or PNUTL1) forms heterooligomeric complexes with other septins and localizes to synaptic vesicles, presynaptic terminals, and the annulus of sperm. It plays important roles in synaptic vesicle trafficking, exocytosis, and sperm motility.
Located on chromosome 17q23.2, SEPT4 is expressed in brain, testis, and other tissues. In the brain, it is highly expressed in neurons of the hippocampus, cerebral cortex, and cerebellum. SEPT4 has been implicated in Parkinson's disease, as it co-localizes with alpha-synuclein in Lewy bodies, suggesting a potential role in synucleinopathy pathogenesis.## Function
SEPT4 encodes septin 4, a member of the septin family of GTP-binding proteins with important roles in spermatogenesis, apoptosis, and neurodegeneration. SEPT4 is particularly known for its interaction with alpha-synuclein and its involvement in Parkinson's disease pathogenesis. SEPT4 forms hetero-oligomeric complexes with other septins and localizes to the midbody during cytokinesis, synaptic terminals, and the base of cilia.
Expressed in brain, testis, and various other tissues. In the brain, SEPT4 is expressed in dopaminergic neurons of the substantia nigra, cortical neurons, and cerebellar Purkinje cells. It localizes to Lewy bodies in Parkinson's disease.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Parkinson's Disease | P28L, R147C, Y172C | Risk factor | Alpha-synuclein aggregation, dopaminergic neuron loss |
| Cancer | Overexpression | Somatic | Anti-apoptotic function, cytokinesis defects |
| Male Infertility | Various | Autosomal recessive | Spermatogenesis defects |