UNC13A Antibody

1. This study demonstrated that the population specific rare variants of UNC13A may modulate survival in ALS in United kingdom. PMID: 27584932
2. Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder PMID: 28192369
3. UNC13A rs12608932 is a risk factor for ALS and a modifying factor for survival and disease progression rate in a Spanish cohort. PMID: 26162714
4. Munc13-1, on account of its role in both insulin and neurotransmitter exocytosis and through its binding properties, may be an important factor contributing to the development or progression of diabetic neuropathy. PMID: 23830992
5. UNC13A provides a novel link between amyotrophic lateral sclerosis and frontotemporal dementia and identifies changes in neurotransmitter release and synaptic function as a converging mechanism in the pathogenesis of ALS and FTD-TDP. PMID: 24931836
6. CAPS1 binds to the full-length of cytoplasmic syntaxin-1 with preference to its "open" conformation, whereas Munc13-1 binds to the first 80 N-terminal residues of syntaxin-1. PMID: 23801330
7. This study demonistrated that UNC13A influences survival in Italian amyotrophic lateral sclerosis patients. PMID: 22921269
8. Our results further corroborate the role of UNC13A in amyotrophic lateral sclerosis pathogenesis. PMID: 22118904
9. Results do not provide evidence of an association between a variant in the UNC13A gene and susceptibility to sporadic Amyotrophic lateral sclerosis in a French homogeneous population. PMID: 20385924
10. rs12608932 Single Nucleotide Polymorphism is located at 19p13.3 and maps to a haplotype block within the boundaries of UNC13A, which regulates the release of neurotransmitters such as glutamate at neuromuscular synapses. PMID: 19734901

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HGNC: 23150

OMIM: 609894

KEGG: hsa:23025

STRING: 9606.ENSP00000429562

UniGene: Hs.164502