FAH Antibody

中文名稱：

FAH兔多克隆抗體
貨號：

CSB-PA007965LA01HU
規格：

￥440
圖片：
Western Blot
Positive WB detected in: Mouse kidney tissue, Mouse stomach tissue
All lanes: FAH antibody at 3.4µg/ml
Secondary
Goat polyclonal to rabbit IgG at 1/50000 dilution
Predicted band size: 47, 39 kDa
Observed band size: 47 kDa

Immunohistochemistry of paraffin-embedded human liver tissue using CSB-PA007965LA01HU at dilution of 1:100

Immunofluorescent analysis of Hela cells using CSB-PA007965LA01HU at dilution of 1:100 and Alexa Fluor 488-congugated AffiniPure Goat Anti-Rabbit IgG(H+L)
其他：

產品詳情
產品評價
相關產品
靶點詳情

產品詳情

產品名稱：

Rabbit anti-Homo sapiens (Human) FAH Polyclonal antibody
Uniprot No.：

P16930
基因名：

FAH
別名：

FAHFumarylacetoacetase antibody; FAA antibody; EC 3.7.1.2 antibody; Beta-diketonase antibody; Fumarylacetoacetate hydrolase antibody
宿主：

Rabbit
反應種屬：

Human, Mouse
免疫原：

Recombinant Human Fumarylacetoacetase protein (2-250AA)
免疫原種屬：

Homo sapiens (Human)

標記方式：

Non-conjugated

本頁面中的產品，FAH Antibody (CSB-PA007965LA01HU)，的標記方式是Non-conjugated。對于FAH Antibody，我們還提供其他標記。見下表：

標記方式	貨號	產品名稱	應用
HRP	CSB-PA007965LB01HU	FAH Antibody, HRP conjugated	ELISA
FITC	CSB-PA007965LC01HU	FAH Antibody, FITC conjugated
Biotin	CSB-PA007965LD01HU	FAH Antibody, Biotin conjugated	ELISA

克隆類型：

Polyclonal
抗體亞型：

IgG
純化方式：

>95%, Protein G purified
濃度：

It differs from different batches. Please contact us to confirm it.
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
應用范圍：

ELISA, WB, IHC, IF

推薦稀釋比：

Application	Recommended Dilution
WB	1:2000-1:5000
IHC	1:20-1:200
IF	1:50-1:200

Protocols：

ELISA Protocol
Western Blotting (WB) Protocol
Immunohistochemistry (IHC) Protocol
Immunofluorescence (IF) 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

基因功能參考文獻：
1. 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
2. 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
3. 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
4. FAH gene mutation is associated with tyrosinemia type 1. PMID: 26565546
5. Four splicing mutations affecting exonic or intronic nucleotides of the FAH gene were identified in two hereditary tyrosinemia type I patients. PMID: 23895425
6. Two siblings have been described with tyrosinemia type 1 complicated by reversible hypertrophic cardiomyopathy in infancy due to a FAH homozygous mutation. PMID: 24016420
7. Compound mutations (R237X and L375P) in the fumarylacetoacetate hydrolase gene causing tyrosinemia type I in a Chinese patient. PMID: 22884142
8. Identification of novel mutations in the fumarylacetoacetase gene in Hereditary tyrosinaemia type I. PMID: 22554029
9. 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
10. A missense mutation in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation. PMID: 11476670
11. 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
12. 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
13. 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)
蛋白家族：

FAH family
組織特異性：

Mainly expressed in liver and kidney. Lower levels are also detected in many other tissues.
數據庫鏈接：

HGNC: 3579

OMIM: 276700

KEGG: hsa:2184

STRING: 9606.ENSP00000261755

UniGene: Hs.73875

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