GRID2 Antibody
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货号:CSB-PA269961
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规格:¥2024
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图片:
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) GRID2 Polyclonal antibody
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Uniprot No.:O43424
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基因名:GRID2
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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:Synthesized peptide derived from internal of Human GRID2.
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免疫原种属:Homo sapiens (Human)
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克隆类型:Polyclonal
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纯化方式:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
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浓度:It differs from different batches. Please contact us to confirm it.
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产品提供形式:Liquid
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应用范围:ELISA,WB,IF
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推荐稀释比:
Application Recommended Dilution WB 1:500-1:3000 IF 1:100-1:500 -
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:Receptor for glutamate. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system. The postsynaptic actions of Glu are mediated by a variety of receptors that are named according to their selective agonists. Promotes synaptogenesis and mediates the D-Serine-dependent long term depression signals and AMPA receptor endocytosis of cerebellar parallel fiber-Purkinje cell (PF-PC) synapses through the beta-NRX1-CBLN1-GRID2 triad complex.
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基因功能参考文献:
- Report on a consanguineous family with autosomal recessive childhood onset of cerebellar ataxia and delayed psychomotor development. Using whole exome sequencing we identified a novel homozygous missense variant [c.2128C > T, p.(Arg710Trp)] in GRID2 that segregates with the disease. The missense variant is located in a conserved region encoding the extracellular serine-binding domain of the GluD2 protein. PMID: 29207948
- GRID2 gene can be a suppressor in TNF-induced neurodegeneration which may help to understand the main factors leading to autism. PMID: 27019035
- Glutamate system genes including have been associated with disease risk in recent analyses from the Psychiatric Genomics Consortium. PMID: 26905411
- findings suggest a possible role of GRID2 in the susceptibility to develop mevalonate kinase deficiency. GRID2 gene associated with MKD: The rs1450500 SNP was differently distributed in patients with MKD with respect to those with recurrent fever. PMID: 25146332
- We demonstrated for the first time GRID2 expression and localization in human and murine retina, providing evidence for a novel functional role of GRID2 in the retina. PMID: 25122145
- GRID2 point mutations: cerebellar ataxia is the core phenotype, but with variable severity ranging from very mild adult-onset to congenital-onset linked to both the heterozygous and homozygous state of the variant, and the position of the mutation. PMID: 25841024
- GluD2 gating is triggered by type 1 metabotropic glutamate receptors. PMID: 24357660
- GRID2 mutations are associated with a recessive syndrome causing cerebellar ataxia and eye movement abnormalities. PMID: 24078737
- Tests for gene-environment interaction between these 33 genes and maternal smoking found evidence for interaction with two additional genes: GRID2 and ELAVL2 among European mothers PMID: 23512105
- Glutamate receptor delta2 is involved in a common mechanism that restricts the number of synaptic AMPA receptors at parallel fiber synapses in cerebellar Purkinje cells. PMID: 21368048
- Thus, phosphorylation of -2T and/or -1S of GluRdelta2 C-terminus by PKA may regulate the binding of GluRdelta2 to its scaffolding protein, Delphilin. PMID: 17027646
- The carboxy terminus of transgenic GluRdelta2 conveys the signal(s) necessary for long-term depression induction and motor learning. PMID: 18256267
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相关疾病:Spinocerebellar ataxia, autosomal recessive, 18 (SCAR18)
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亚细胞定位:Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.
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蛋白家族:Glutamate-gated ion channel (TC 1.A.10.1) family, GRID2 subfamily
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数据库链接:
HGNC: 4576
OMIM: 602368
KEGG: hsa:2895
STRING: 9606.ENSP00000282020
UniGene: Hs.162727
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