NMNAT1 Antibody
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中文名稱：NMNAT1兔多克隆抗體
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貨號：CSB-PA864012ESR1HU
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規格：￥440
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圖片：
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Immunohistochemistry of paraffin-embedded human pancreatic tissue using CSB-PA864012ESR1HU at dilution of 1:100
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) NMNAT1 Polyclonal antibody
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Uniprot No.：
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基因名：NMNAT1
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別名：EC 2.7.7.1 antibody; LCA9 antibody; Leber's congenital amaurosis 9 antibody; NaMN adenylyltransferase 1 antibody; nicotinamide nucleotide adenylyltransferase 1 antibody; Nicotinamide-nucleotide adenylyltransferase 1 antibody; Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 antibody; nicotinate nucleotide adenylyltransferase 1 antibody; Nicotinate-nucleotide adenylyltransferase 1 antibody; NMN adenylyltransferase 1 antibody; NMN/NaMN adenylyltransferase 1 antibody; NMNA1_HUMAN antibody; Nmnat 1 antibody; Nmnat1 antibody; OTTHUMP00000001731 antibody; OTTHUMP00000001732 antibody; OTTHUMP00000035892 antibody; PNAT 1 antibody; PNAT1 antibody; pyridine nucleotide adenylyltransferase 1 antibody
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宿主：Rabbit
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反應種屬：Human
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免疫原：Recombinant Human Nicotinamide/nicotinic acid mononucleotide adenylyltransferase 1 protein (1-279AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Non-conjugated
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克隆類型：Polyclonal
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抗體亞型：IgG
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純化方式：Antigen Affinity Purified
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濃度：It differs from different batches. Please contact us to confirm it.
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保存緩沖液：PBS with 0.02% sodium azide, 50% glycerol, pH7.3.
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產品提供形式：Liquid
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應用范圍：ELISA, IHC
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推薦稀釋比：
Application Recommended Dilution IHC 1:20-1:200 -
Protocols：
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儲存條件：Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
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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.
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用途：For Research Use Only. Not for use in diagnostic or therapeutic procedures.
產品評價
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靶點詳情
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功能：Catalyzes the formation of NAD(+) from nicotinamide mononucleotide (NMN) and ATP. Can also use the deamidated form; nicotinic acid mononucleotide (NaMN) as substrate with the same efficiency. Can use triazofurin monophosphate (TrMP) as substrate. Also catalyzes the reverse reaction, i.e. the pyrophosphorolytic cleavage of NAD(+). For the pyrophosphorolytic activity, prefers NAD(+) and NaAD as substrates and degrades NADH, nicotinic acid adenine dinucleotide phosphate (NHD) and nicotinamide guanine dinucleotide (NGD) less effectively. Involved in the synthesis of ATP in the nucleus, together with PARP1, PARG and NUDT5. Nuclear ATP generation is required for extensive chromatin remodeling events that are energy-consuming. Fails to cleave phosphorylated dinucleotides NADP(+), NADPH and NaADP(+). Protects against axonal degeneration following mechanical or toxic insults.
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基因功能參考文獻：
- Rare homozygous variant c.[271G > A] p.(Glu91Lys) and compound heterozygous variants c.[53 A > G];[769G > A] p.(Asn18Ser);(Glu257Lys) were identified in two cases of cone-rod dystrophy, respectively. PMID: 29184169
- Results associate a distinct retinal dystrophy phenotype with nicotinamide-nucleotide adenylyltransferase 1 protein (NMNAT1) mutation and suggest coiled-coil domain containing 66 (CCDC66) should not be considered a retinal dystrophy candidate gene. PMID: 28369829
- Hidden Genetic Variation in LCA9-Associated Congenital Blindness Explained by 5'UTR Mutations and Copy-Number Variations of NMNAT1. PMID: 26316326
- We confirmed a diagnosis of NMNAT1-associated Leber congenital amaurosis in two siblings through identification of the mutation (c.25G>A [p. Val9Met]) in a homozygous state. PMID: 26464178
- NMNAT1, which encodes the nicotinamide mononucleotide adenylyltransferase 1, has been recently identified to be one of the LCA-causing genes. Our results expanded the spectrum of mutations in NMNAT1 PMID: 25988908
- To study how mutations affect NMNAT1 function and ultimately lead to a retinal degeneration phenotype, we performed detailed analysis of Leber congenital amaurosis 9-associated NMNAT1 mutants. PMID: 26018082
- theNMNAT1 p.Glu257Lys variant is a hypomorphic variant that almost without exception causes leber congenital amaurosis (LCA) in combination with more severe NMNAT1 variants. PMID: 24830548
- The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies. PMID: 24940029
- NMNAT1 deletion in tumors may contribute to transformation by increasing ribosomal RNA synthesis. PMID: 23737528
- mutations in nicotinamide nucleotide adenylyltransferase 1(NMNAT1) cause Leber congenital amaurosis PMID: 23351689
- Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. PMID: 22842229
- A new disease mechanism underlying Leber congential amaurosis and the first link between endogenous NMNAT1 dysfunction and a human nervous system disorder. PMID: 22842230
- Our studies link the enzymatic activities of NMNAT-1 and PARP-1 to the regulation of a set of common target genes through functional interactions at target gene promoters. PMID: 22334709
- Study investigated the importance of NMNAT2's central domain, which are postulated to be dispensable for catalytic activity, instead representing an isozyme-specific control domain within the overall architecture of NMNAT2. PMID: 20954240
- nicotinamide mononucleotide adenylyltransferase (Nmnat) protein transduction into transected axons blocks axonal degeneration PMID: 21071441
- Neuronal expression of exogenous Nmnat1 protein localized to the cytosol is essential and sufficient to delay Wallerian degeneration; cytosolic Nmnat1 showed greatly enhanced axon protection compared with native (nuclear) Nmnat1. PMID: 19458223
- Axonal targeting of transgenic NMNAT activity is both necessary and sufficient to delay Wallerian degeneration; promoting axonal and synaptic delivery greatly enhances NMNAT1 effectiveness. PMID: 20926655
- Red blood cells represent the first human cell type with a remarkable predominance of NMNAT3 over NMNAT1; NMNAT2 is absent. PMID: 20457531
- analysis of isoform-specific targeting and interaction domains in human nicotinamide mononucleotide adenylyltransferases PMID: 20388704
- By using a combination of single isomorphous replacement and density modification techniques, the human NMNAT structure was solved by x-ray crystallography to a 2.5-A resolution, revealing a hexamer that is composed of alpha/beta-topology subunits PMID: 11751893
- structure determination and role in activating tiazofurin PMID: 11788603
- Crystal structure of human nicotinamide mononucleotide adenylyltransferase in complex with NMN. PMID: 11959140
- structural characterization of this human cytosolic enzyme and implicatons in NAD biosyntheesis PMID: 12574164
- NMNAT1 is a nuclear protein, whereas NMNAT2 and -3 are localized to the Golgi complex and the mitochondria PMID: 16118205
- depending on its state of phosphorylation, NMNAT-1 binds to activated, automodifying PARP-1 and thereby amplifies poly(ADP-ribosyl)ation PMID: 17360427
- ATP binds before NMN with nuclear isozyme NMNAT1. NMNH conversion to NADH by NMNAT1 and NMNAT3 occurs at similar rates, conversion by NMNAT2 is much slower. PMID: 17402747
- Nicotinamide mononucleotide adenylyl transferase 1 (Nmnat1) is important for axonal protection, since mutants with reduced enzymatic activity lack axon protective activity. PMID: 19403820
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相關疾病：Leber congenital amaurosis 9 (LCA9)
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亞細胞定位：Nucleus.
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蛋白家族：Eukaryotic NMN adenylyltransferase family
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組織特異性：Widely expressed with highest levels in skeletal muscle, heart and kidney. Also expressed in the liver pancreas and placenta. Widely expressed throughout the brain.
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數據庫鏈接：
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