Sema3A Gene is an important component in the neurobiology of neurodegenerative diseases. This page provides detailed information about its structure, function, and role in disease processes.
| Semaphorin 3A | |
|---|---|
| Gene Symbol | SEMA3A |
| Full Name | Semaphorin 3A |
| Chromosome | 7p12.1 |
| NCBI Gene ID | 10371 |
| OMIM | 607947 |
| Ensembl ID | ENSG00000138594 |
| UniProt ID | Q14563 |
| Associated Diseases | Autism Spectrum Disorder, Intellectual Disability |
SEMA3A is a gene/protein encoding a key neuronal protein involved in synaptic function, signal transduction, and cellular homeostasis. Dysfunction of SEMA3A is associated with neurodegenerative diseases including Alzheimer's disease, Parkinson's disease, and related disorders.
SEMA3A encodes semaphorin 3A, a secreted member of the semaphorin family of axon guidance molecules. SEMA3A binds to neuropilin and plexin receptor complexes to repel developing axons and regulate synaptic plasticity. It plays critical roles in neuronal development, migration, and circuit formation.
Expressed in various brain regions during development and in adulthood, particularly in the cortex and hippocampus.
| Disease | Variants | Inheritance | Mechanism |
|---|---|---|---|
| Autism Spectrum Disorder | Missense, deletions | Autosomal dominant | Impaired axon guidance |
| Intellectual Disability | Various | Autosomal dominant | Altered neural development |
The study of Sema3A Gene has evolved significantly over the past decades. Research in this area has revealed important insights into the underlying mechanisms of neurodegeneration and continues to drive therapeutic development.
Historical context and key discoveries in this field have shaped our current understanding and will continue to guide future research directions.