UNC13A Antibody
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货号:CSB-PA025621GA01HU
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规格:¥3,900
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其他:
产品详情
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Uniprot No.:Q9UPW8
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基因名:
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别名:UNC13A antibody; KIAA1032 antibody; Protein unc-13 homolog A antibody; Munc13-1 antibody
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宿主:Rabbit
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反应种属:Human,Mouse,Rat
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免疫原:Human UNC13A
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免疫原种属:Homo sapiens (Human)
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抗体亚型:IgG
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纯化方式:Antigen Affinity purified
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浓度:It differs from different batches. Please contact us to confirm it.
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保存缓冲液:0.1M NaHCO3,0.1M Glycine, 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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产品提供形式:Liquid
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应用范围:ELISA,WB
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Protocols:
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储存条件:Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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货期:Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.
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靶点详情
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功能:Plays a role in vesicle maturation during exocytosis as a target of the diacylglycerol second messenger pathway. Involved in neurotransmitter release by acting in synaptic vesicle priming prior to vesicle fusion and participates in the activity-dependent refilling of readily releasable vesicle pool (RRP). Essential for synaptic vesicle maturation in most excitatory/glutamatergic but not inhibitory/GABA-mediated synapses. Facilitates neuronal dense core vesicles fusion as well as controls the location and efficiency of their synaptic release. Also involved in secretory granule priming in insulin secretion. Plays a role in dendrite formation by melanocytes.
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基因功能参考文献:
- This study demonstrated that the population specific rare variants of UNC13A may modulate survival in ALS in United kingdom. PMID: 27584932
- Synaptic UNC13A protein variant causes increased neurotransmission and dyskinetic movement disorder PMID: 28192369
- UNC13A rs12608932 is a risk factor for ALS and a modifying factor for survival and disease progression rate in a Spanish cohort. PMID: 26162714
- 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
- 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
- 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
- This study demonistrated that UNC13A influences survival in Italian amyotrophic lateral sclerosis patients. PMID: 22921269
- Our results further corroborate the role of UNC13A in amyotrophic lateral sclerosis pathogenesis. PMID: 22118904
- 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
- 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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亚细胞定位:Cytoplasm. Cell membrane; Peripheral membrane protein. Cell junction, synapse, presynaptic cell membrane; Peripheral membrane protein. Cell junction, synapse, presynaptic active zone.
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蛋白家族:Unc-13 family
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组织特异性:Expressed in pancreatic islet cells. Expressed in melanocytes.
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数据库链接:
HGNC: 23150
OMIM: 609894
KEGG: hsa:23025
STRING: 9606.ENSP00000429562
UniGene: Hs.164502
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