| UNC13 Homolog B | |
|---|---|
| Gene Symbol | UNC13B |
| Full Name | UNC13 Homolog B |
| Chromosome | 9p13.3 |
| NCBI Gene ID | 23026 |
| OMIM | 607698 |
| Ensembl ID | ENSG00000075643 |
| UniProt ID | Q9Y5S4 |
| Associated Diseases | Alzheimer's Disease, Parkinson's Disease, Epilepsy |
UNC13B (UNC13 Homolog B) encodes Munc13-2, a critical synaptic protein involved in neurotransmitter release. Munc13-2 plays essential roles in synaptic vesicle priming and short-term plasticity, making it crucial for normal brain function. This gene has been implicated in several neurodegenerative and neurological disorders, including Alzheimer's disease, Parkinson's disease, and epilepsy.
UNC13B encodes Munc13-2, a homolog of Munc13-1 with overlapping and distinct functions. Munc13-2 has two major isoforms:
Munc13-2 regulates:
Munc13-2 may have specialized functions in certain neuron types and brain regions.
UNC13B variants have been linked to:
UNC13B/Munc13-2 is expressed in:
Expression overlaps with UNC13A but has region-specific patterns.
"1. Munc13-2 isoform functions - Isoform-specific roles
2. Munc13 proteins in synaptic transmission - Family review
3. UNC13B in disease - Disease associations