NRXN1 Antibody

說明書

中文名稱：

NRXN1兔多克隆抗體
貨號：

CSB-PA016096GA01HU
規格：

￥3,900
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

Uniprot No.：

Q9ULB1
基因名：

NRXN1
別名：

DKFZp313P2036 antibody; FLJ35941 antibody; Hs.22998 antibody; KIAA0578 antibody; Neurexin 1 alpha antibody; Neurexin 1 beta antibody; Neurexin I-alpha antibody; Neurexin-1 antibody; Neurexin-1-alpha antibody; NRX1A_HUMAN antibody; NRXN1 antibody; PTHSL2 antibody; SCZD17 antibody
宿主：

Rabbit
反應種屬：

Human,Mouse,Rat
免疫原：

Human NRXN1
免疫原種屬：

Homo sapiens (Human)
抗體亞型：

IgG
純化方式：

Antigen Affinity purified
濃度：

It differs from different batches. Please contact us to confirm it.
保存緩沖液：

0.1M NaHCO3,0.1M Glycine, 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
產品提供形式：

Liquid
應用范圍：

ELISA,WB
Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
儲存條件：

Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
貨期：

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.
用途：

For Research Use Only. Not for use in diagnostic or therapeutic procedures.

產品評價

靶點詳情

功能：

Cell surface protein involved in cell-cell-interactions, exocytosis of secretory granules and regulation of signal transmission. Function is isoform-specific. Alpha-type isoforms have a long N-terminus with six laminin G-like domains and play an important role in synaptic signal transmission. Alpha-type isoforms play a role in the regulation of calcium channel activity and Ca(2+)-triggered neurotransmitter release at synapses and at neuromuscular junctions. They play an important role in Ca(2+)-triggered exocytosis of secretory granules in pituitary gland. They may effect their functions at synapses and in endocrine cells via their interactions with proteins from the exocytotic machinery. Likewise, alpha-type isoforms play a role in regulating the activity of postsynaptic NMDA receptors, a subtype of glutamate-gated ion channels. Both alpha-type and beta-type isoforms may play a role in the formation or maintenance of synaptic junctions via their calcium-dependent interactions (via the extracellular domains) with neuroligin family members, CBLN1 or CBLN2. In vitro, triggers the de novo formation of presynaptic structures. May be involved in specification of excitatory synapses. Alpha-type isoforms were first identified as receptors for alpha-latrotoxin from spider venom.
基因功能參考文獻：
1. Dual mutations of NRXN1 and TP53 proteins are associated with different drug responses in gastric cancer. PMID: 27708434
2. findings did not support a major role of prominent NRXN1 gene polymorphisms in tardive dyskinesia PMID: 28120489
3. The results support the importance of exons near the 5' end of NRXN1 in the expression of neurodevelopmental disorders. Intronic NRXN1 deletions do not appear to substantially increase the risk for clinical phenotypes PMID: 27195815
4. that alpha-Neurexin binding to alpha2delta of N-type calcium channels is a conserved mechanism for regulating synaptic transmission PMID: 28669545
5. NRXN1 copy number variants (deletions) were associated with increased risk of Tourette syndrome. PMID: 28641109
6. MDGAs regulate the formation of neuroligin-neurexin trans-synaptic bridges by sterically blocking access of neurexins to neuroligins. PMID: 28641112
7. In a Mexican Mestizo population, greater consumption of cigarettes was influenced by polymorphisms in the NRXN1 and CHRNA5 genes. PMID: 27355804
8. Results demonstrate that NRXN1 alternative isoform expression is temporally regulated during critical periods of human neocortical development and identify potential differential molecular contributions of NRXN1-alpha and -beta to schizophrenia and bipolar disorder PMID: 26216298
9. the top-ranked discordances were subsequently selected for validation by quantitative polymerase chain reaction (qPCR), from which one single ~120kb deletion in NRXN1 on chromosome 2 (bp 51017111-51136802) was validated PMID: 26899349
10. Atypical hand-foot-genital syndrome and developmental delay due to de novo mutations in HOXA13 and NRXN1 PMID: 26590955
11. The rare variants in NRXN1 were significantly associated with smoking status. PMID: 25450229
12. NRXN1 has an affinity for binding to LRRTM2 in hippocampal synapses. PMID: 26785044
13. heterozygous inactivation of NRXN1 directly impairs synaptic function in human neurons. PMID: 26279266
14. Increasing expression of TGF-beta1 protein, decreasing expressions of Ghrelin, Neurexin, and Neuroligin proteins can induce the loss or dysfunction of ganglion cells in distal intestinal canal PMID: 25399301
15. Results indicate that the neurexin and neuroligin synaptic complex is intrinsically involved in the regulation of DISC1 function, thus contributing to a better understanding of the pathology of schizophrenia. PMID: 26078884
16. Study suggests a role of rare missense variants at NRXN1 and AKAP9 in schizophrenia susceptibility, probably related to alteration of the excitatory/inhibitory synaptic balance, deserving further investigation PMID: 25943950
17. The phenotype found in the microdeletions of alpha exons of the NRXN1 gene is clearly distinguishable from the one found in the microdeletions of beta exons, with macrocephaly, epilepsy and mental retardation. PMID: 25710691
18. The role of NRXN1 in in paranoid schizophrenia development in Russians. PMID: 26410934
19. A further patient with a biallelic homozygous deletion in NRXN1 is reported here. PMID: 25486015
20. study did not find any of the 4 mutations identified in patients meeting the diagnostic criteria for autism with intellectual disability in either the schizophrenia patient group or the control group despite expected genetic overlap among autism, intellectual disability and schizophrenia PMID: 25242362
21. Mutation screening of the NRXN1gene in patients with ID and ASD may be useful to identify potential variants predisposing to ID and ASD PMID: 24832020
22. Study provides statistically significant evidence of association of NRXN1 rs12467557 and rs10490162 with atypical antipsychotic treatment response in a placebo-controlled, in-patient treatment response study PMID: 24633560
23. This study demonistrated that NRXN1 deletions are more frequent in patients with schizophrenia than in healthy individuals. PMID: 24680031
24. study identified a homozygous mutation in RBBP8, which co-segregates with microcephaly-associated intellectual disability syndrome in a Pakistani family; also identified a heterozygous deletion encompassing the NRXN1 in this family, which is present in 2 affected sibs with complex phenotype and the mother with mild phenotype PMID: 24440292
25. These data reinforce a role for synaptic defects of NRXN1beta in neurodevelopmental disorders. PMID: 24064682
26. The rs10187911(NRXN1 protein) on 2p16.3 was significantly associated with lung cancer development (dominant model, OR of TG or GG, 1.58, P = 0.025). PMID: 23772147
27. based on in vitro models, NRXN1 deletions impact several biological processes during neurodevelopment, including synaptic adhesion and neuron differentiation. PMID: 23536886
28. alpha- or beta-NRXN-1 isoforms expressed under C. elegans nrx-1 promoter rescue impairment of exploratory behavior and sinusoidal postural movement in nrx-1 C elegans mutant. PMID: 23638761
29. study supports a pathogenic role for heterozygous exonic deletions of NRXN1 in neurodevelopmental disorders PMID: 23533028
30. The results are consistent with the proposal that rare CNVs play a role in TS aetiology and suggest a possible role for rearrangements in the COL8A1 and NRXN1 gene regions PMID: 23533600
31. Expression levels of neurexin and neuroligin in ENS are significantly down-regulated in HSCR, which may be involved in the pathogenesis of HSCR. PMID: 23264101
32. Deletions in both affected and control individuals were clustered in the 5' portion of NRXN1. PMID: 23472757
33. Patients with exonic deletions in NRXN1 manifested intellectual disability, infantile hypotonia and ASDs. PMID: 22617343
34. In both human and mouse, NRXN1 is co-expressed with numerous cell signaling genes and known schizophrenia candidates. PMID: 22832527
35. We conclude that exon-disrupting deletions of NRXN1 represent a genetic risk factor in the genetically complex predisposition of common idiopathic generalized epilepsies PMID: 23294455
36. Five genes have been directly disrupted in Tourette Syndrome by independent genomic rearrangements and copy number variations with unique breakpoints. PMID: 22948383
37. a possible gene-dose effect of NRXN1 mutations on type and severity of mental illness PMID: 22337556
38. The data reported here support a role for synaptic defects of neurexin-1beta in neurodevelopmental disorders. PMID: 22504536
39. This study demonistrated that there was a statistically significant association of neurexin-1 SNP P300P (rs2303298) with risk of autism in Chinese Han population. PMID: 22405623
40. Neurexin-1alpha is a component of the beta-cell secretory machinery and contributes to secretory granule docking, most likely through interactions with granuphilin. PMID: 22235116
41. Biallelic NRXN1 mutations result in a severe recessive mental retardation syndrome. PMID: 21964664
42. These results suggest that the rs1045881 NRXN1 polymorphism may influence clozapine response. PMID: 21890328
43. Presenilin/gamma-secretase regulates neurexin processing at synapses PMID: 21559374
44. Truncating mutations in NRXN1 is associated with autism spectrum disorders and schizophrenia PMID: 21424692
45. The mutational testing found a heterozygous deletion in NRXN1 in one patient. PMID: 21827697
46. a neural and cognitive susceptibility mechanism by which the NRXN1 gene confers risk for both schizophrenia and autism spectrum disorders PMID: 21687627
47. Schizophrenia patients antipsychotic response may be altered depending on the synaptic connectivity. NRXN1 deletions have also been associated with schizophrenia. observed a trend toward association of clozapine response with the rs12467557 PMID: 20860064
48. findings suggest that NRXN1 might represent a major susceptibility gene for schizophrenia in Chinese Han population. PMID: 21477380
49. The results of this study do not suggest the existence of rare, highly penetrant NRXN1 mutations in patients with schizophrenia. PMID: 21288692
50. The rs6721498 and rs2193225 of NRXN1 were genotyped in 2516 Japanese with various smoking habits. PMID: 20414139
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相關疾病：

Pitt-Hopkins-like syndrome 2 (PTHSL2)
亞細胞定位：

Cell junction, synapse, presynaptic cell membrane; Single-pass type I membrane protein.
蛋白家族：

Neurexin family
組織特異性：

Brain.
數據庫鏈接：

HGNC: 8008

OMIM: 600565

STRING: 9606.ENSP00000385142

UniGene: Hs.637685

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