| Septin 7 | |
|---|---|
| Gene Symbol | SEPT7 |
| Full Name | Septin 7 |
| Chromosome | 7p14.3 |
| NCBI Gene ID | 317762 |
| OMIM | 613502 |
| Ensembl ID | ENSG00000122545 |
| UniProt ID | Q8N4M1 |
| Associated Diseases | Neurodevelopmental Disorders, Cancer, Intellectual Disability |
{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.
SEPT7 (Septin 7) is a critical member of the septin family of GTP-binding proteins that functions as a central organizer of septin heterooligomers. SEPT7 is essential for cytokinesis, cellular polarity, and synaptic function. It serves as a scaffold for protein complexes and forms the core of septin filaments that act as diffusion barriers and structural scaffolds.
Located on chromosome 7p14.3, SEPT7 is ubiquitously expressed with high levels in neurons. In the brain, SEPT7 is enriched in dendritic spines, synapses, and the axon initial segment. It plays crucial roles in synaptic plasticity, neurotransmitter release, and neuronal migration. SEPT7 deficiency has been linked to neurodevelopmental disorders and neurodegenerative diseases.## Function
SEPT7 encodes septin 7, a critical member of the septin family of GTP-binding proteins. SEPT7 is essential for septin filament formation and serves as a scaffold for higher-order septin complexes. It plays vital roles in cytokinesis, membrane trafficking, neuronal development, and synaptic function. SEPT7 is required for proper neuronal polarity, axon guidance, and dendritic arborization.
Expressed in most tissues with high expression in brain. In neurons, SEPT7 localizes to dendrites, axons, and synaptic terminals. It is particularly enriched in the cerebral cortex, hippocampus, and cerebellum.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Neurodevelopmental Disorders | Various | Autosomal dominant | Impaired neuronal development, synaptic dysfunction |
| Cancer | Overexpression | Somatic | Altered cell division |
| Intellectual Disability | R191W | Autosomal dominant | Impaired cortical development |