FAH Antibody, Biotin conjugated
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中文名稱：FAH兔多克隆抗體, Biotin偶聯
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貨號：CSB-PA007965LD01HU
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規格：￥880
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其他：
產品詳情
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產品名稱：Rabbit anti-Homo sapiens (Human) FAH Polyclonal antibody
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Uniprot No.：
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基因名：FAH
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別名：FAHFumarylacetoacetase antibody; FAA antibody; EC 3.7.1.2 antibody; Beta-diketonase antibody; Fumarylacetoacetate hydrolase 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 Fumarylacetoacetase protein (2-250AA)
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免疫原種屬：Homo sapiens (Human)
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標記方式：Biotin
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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：>95%, Protein G 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：Preservative: 0.03% Proclin 300
Constituents: 50% Glycerol, 0.01M PBS, PH 7.4 -
產品提供形式：Liquid
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應用范圍：ELISA
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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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基因功能參考文獻：
- Altogether these findings elucidate the molecular basis of HT1 caused by the frequent FAH c.1062+5G>A mutation, and demonstrate the compensatory effect of the c.1061C>A change in promoting exon definition, thus unraveling a rare mechanism leading to FAH immune-reactive mosaicism. PMID: 29497141
- molecular aspects of the FAH gene and its corresponding protein and a complete listing of all the mutations identified to date; highlight of the importance of splicing mutations in hereditary tyrosinemia type 1 PMID: 28755182
- Results from whole exome sequencing revealed a novel homozygous missense variant in FAH causing tyrosinemia type I . This novel variant involves the catalytic pocket of the enzyme, but does not result in increased succinylacetone or tyrosine. PMID: 27397503
- FAH gene mutation is associated with tyrosinemia type 1. PMID: 26565546
- Four splicing mutations affecting exonic or intronic nucleotides of the FAH gene were identified in two hereditary tyrosinemia type I patients. PMID: 23895425
- Two siblings have been described with tyrosinemia type 1 complicated by reversible hypertrophic cardiomyopathy in infancy due to a FAH homozygous mutation. PMID: 24016420
- Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. PMID: 22884142
- Identification of novel mutations in the fumarylacetoacetase gene in Hereditary tyrosinaemia type I. PMID: 22554029
- We detected 11 novel and 6 previously described pathogenic mutations in the fumarylacetoacetase gene in a cohort of 43 patients originating from the Middle East with the acute form hereditary tyrosinemia type I PMID: 21764616
- A missense mutation in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. PMID: 11476670
- Data describe the metabolism of fumarylacetoacetate hydrolase mRNA harboring a nonsense mutation, W262X, in lymphoblastoid cell lines derived from hereditary tyrosinemia type I patients. PMID: 15465000
- identification of an alternative nonsense transcript of the fah gene, which despite being subjected to nonsense-mediated mRNA decay, produces a protein in different human tissues PMID: 15638932
- An immunopositive liver nodule was found in a patient with tyrosinemia having a mosaic pattern of FAH. PMID: 15759101
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相關疾病：Tyrosinemia 1 (TYRSN1)
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蛋白家族：FAH family
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組織特異性：Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
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數據庫鏈接：
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