DPYS Antibody
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中文名稱：DPYS兔多克隆抗體
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貨號：CSB-PA007169GA01HU
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規格：￥3,900
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其他：
產品詳情
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Uniprot No.：
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基因名：DPYS
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別名：DHP antibody; DHPase antibody; Dihydropyrimidinase antibody; Dihydropyrimidine amidohydrolase antibody; Dpys antibody; DPYS_HUMAN antibody; Hydantoinase antibody
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宿主：Rabbit
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反應種屬：Human,Mouse,Rat
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免疫原：Human DPYS
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免疫原種屬：Homo sapiens (Human)
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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 0.1% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
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產品提供形式：Liquid
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應用范圍：ELISA,WB,IHC
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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
相關產品
靶點詳情
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功能：Catalyzes the second step of the reductive pyrimidine degradation, the reversible hydrolytic ring opening of dihydropyrimidines. Can catalyze the ring opening of 5,6-dihydrouracil to N-carbamyl-alanine and of 5,6-dihydrothymine to N-carbamyl-amino isobutyrate.
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基因功能參考文獻：
- 4 newly identified DHP deficient patients presented with strongly elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine and a highly variable clinical presentation, ranging from asymptomatic to infantile spasm and reduced white matter and brain atrophy. Analysis of the DHP gene (DPYS) showed the presence of 8 variants including 4 novel/rare missense variants and one novel deletion. PMID: 29054612
- Two unrelated pediatric DPYS deficiency cases are being described as compound heterozygotes for a novel intronic mutation c.1443+5G>A in intron 8 and a previously described missense mutation c.1001A>G (p.Q334R) in exon 6. PMID: 26771602
- Stepwise Cox regression modelling suggested that the methylation of genes HSPB1, CCND2 and DPYS contributed objective prognostic information to Gleason score and PSA with respect to prostate cancer-related death. PMID: 25193387
- The p.S379R and p.L7V mutations were likely to cause structural destabilization and protein misfolding. Four mutations were identified in multiple unrelated DHP patients, indicating that DHP deficiency may be more common than anticipated. PMID: 20362666
- Results indicate that missense and nonsense variants in DPYS are infrequent, however, the development of serious primarily gastrointestinal toxicity could be influenced by non-coding DPYS sequence variants c.-1T>C and IVS1-58T>C. PMID: 19649633
- clinical, biochemical & genetic findings of two newly identified patients with a complete DHP deficiency; both patients were compound heterozygous for the missense mutation 1078T>C (W360R) in exon 6 and a novel missense mutation 1235G>T (R412M) in exon 7 PMID: 17383919
- data presented in this study offers evidence for the possible genetic regulation of the DPYS gene and its possible influence on uracil catabolic pathway PMID: 18075467
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相關疾病：Dihydropyrimidinase deficiency (DPYSD)
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蛋白家族：Metallo-dependent hydrolases superfamily, Hydantoinase/dihydropyrimidinase family
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組織特異性：Liver and kidney.
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數據庫鏈接：
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