NYX Antibody
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货号:CSB-PA016237ESR1HU
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规格:¥440
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促销:
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图片:
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Western blot
All lanes: NYX antibody at 7.23 μg/ml
Lane 1: Mouse gonadal tissue
Lane 2: Mouse liver tissue
Secondary
Goat polyclonal to rabbit IgG at 1/10000 dilution
Predicted band size: 52 kDa
Observed band size: 52, 37, 45, 90 kDa -
Immunohistochemistry of paraffin-embedded human kidney tissue using CSB-PA016237ESR1HU at dilution of 1:100
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其他:
产品详情
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产品名称:Rabbit anti-Homo sapiens (Human) NYX Polyclonal antibody
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Uniprot No.:Q9GZU5
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基因名:NYX
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别名:CLRP antibody; CSNB1 antibody; CSNB4 antibody; leucine-rich repeat protein antibody; Nyctalopin antibody; NYX antibody; NYX_HUMAN antibody
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宿主:Rabbit
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反应种属:Human, Mouse
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免疫原:Recombinant Human Nyctalopin protein (282-481AA)
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免疫原种属:Homo sapiens (Human)
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标记方式:Non-conjugated
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克隆类型:Polyclonal
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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:PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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产品提供形式:Liquid
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应用范围:ELISA, WB, IHC
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推荐稀释比:
Application Recommended Dilution WB 1:1000-1:5000 IHC 1:20-1:200 -
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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基因功能参考文献:
- Two Novel NYX Gene Mutations in the Chinese Families with X-linked Congenital Stationary Night Blindness were described. PMID: 26234941
- Four potential pathogenic variations in the NYX gene were found in four families with high myopia with or without CSNB1. PMID: 25802485
- Loss of ERG amplitude and apparent ON-pathway dysfunction at high temporal frequencies distinguish this patient with a Trp237Ter NYX mutation from those with other previously reported NYX mutations. PMID: 23289809
- A missense mutation (c.529_530GC>AT or p.Ala177Met) was identified in one male subject with high myopia, but not in 200 male emmetropes. PMID: 23406521
- A mutation was identified in NYX in 20 male patients with Congenital Stationary Night Blindness 1. PMID: 23714322
- The results expand the mutation spectrum of NYX, CACNA1F and GRM6. They also suggest that NYX mutations are a common cause of congenital stationary night blindness (CSNB). PMID: 22735794
- A proteomic search for proteins associated with nyctalopin in the retina identified TRPM1 as the binding partner and nyctalopin additionally interacts with mGluR6 receptor. PMID: 21832182
- Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. PMID: 12397430
- Seven in-frame deletion, splicing, missense, nonsense, and frameshift mutations were identified segregating with X-linked congenital stationary night blindness in the NYX gene. PMID: 12552565
- Human and mouse nyctalopin are membrane-bound extracellular proteins and are functionally conserved. PMID: 14507859
- The results implicated a specific on-pathway signaling deficiency in CSNB1-NYX males with no evidence of off-pathway involvement. Likewise, rapid-on/off ramping stimuli also indicated that the functional deficit was localized to the on pathway. PMID: 15331616
- In a pool of eight diagnosed XLCSNB (X-linked congenital stationary night blindness) patients, five showed a sequence variation in the CACNA1F and two in the NYX gene. PMID: 15761389
- Results support a role for nyctalopin in synaptic transmission and/or synapse formation at ribbon synapses in the retina. PMID: 16553780
- X-linked congenital night blindness mutations are reported in Chinese males in two families. PMID: 16670814
- Mutations in NYX may cause high myopia without congenital stationary night blindness. PMID: 17392683
- The c.855delG deletion in NYX seems to be a common mutation associated with CSNB in the Flemish population from Belgium. PMID: 18617546
- The nob (no b-wave) mouse model of CSNB1 (complete form of human X-linked congenital stationary night blindness) involves an 85-bp deletion in the nyx gene. PMID: 12506099
- Novel mutations of NYX were identified in two Chinese families with CSNB1 and myopia. PMID: 16670814
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相关疾病:Night blindness, congenital stationary, 1A (CSNB1A)
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亚细胞定位:Secreted, extracellular space, extracellular matrix.
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蛋白家族:Small leucine-rich proteoglycan (SLRP) family, SLRP class IV subfamily
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组织特异性:Expressed in kidney and retina. Also at low levels in brain, testis and muscle. Within the retina, expressed in the inner segment of photoreceptors, outer and inner nuclear layers and the ganglion cell layer.
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数据库链接:
HGNC: 8082
OMIM: 300278
KEGG: hsa:60506
STRING: 9606.ENSP00000340328
UniGene: Hs.302019
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