推薦產品
生物源
rabbit
品質等級
共軛
unconjugated
抗體表格
IgG fraction of antiserum
抗體產品種類
primary antibodies
無性繁殖
polyclonal
形狀
buffered aqueous solution
分子量
46 kDa
物種活性
dog, horse, human, mouse, rat
濃度
0.5-1 mg/mL
技術
immunoblotting: suitable
immunohistochemistry: suitable
登錄號
NM_000137
UniProt登錄號
運輸包裝
wet ice
儲存溫度
−20°C
目標翻譯後修改
unmodified
基因資訊
human ... FAH(2184)
一般說明
The FAH gene is mapped to human chromosome 15q25.1. The encoded protein consists of 419 amino acids and 14 coding exons.
免疫原
Synthetic peptide directed towards the C terminal region of human FAH
生化／生理作用
FAH (fumarylacetoacetate hydrolase) catalyzes the last step in tyrosine catabolic pathway. FAH deficiency leads to hereditary tyrosinemia type 1. FAH mutations eventually lead to Renal Fanconi Syndrome, due to severe liver cirrhosis and renal tubular acidosis caused by accumulation of toxic metabolites such as fumarylacetoacetate.
FAH is the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia.This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
序列
Synthetic peptide located within the following region: AATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
外觀
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
免責聲明
Unless otherwise stated in our catalog or other company documentation accompanying the product(s), our products are intended for research use only and are not to be used for any other purpose, which includes but is not limited to, unauthorized commercial uses, in vitro diagnostic uses, ex vivo or in vivo therapeutic uses or any type of consumption or application to humans or animals.
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儲存類別代碼
10 - Combustible liquids
水污染物質分類（WGK）
WGK 3
閃點（°F）
Not applicable
閃點（°C）
Not applicable
分析證明 (COA)
輸入產品批次/批號來搜索 分析證明 (COA)。在產品’s標籤上找到批次和批號，寫有 ‘Lot’或‘Batch’.。
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
Morrow G, et al.
Advances in Experimental Medicine and Biology, 25-48 (2017)
Silent tyrosinemia type I without elevated tyrosine or succinylacetone associated with liver cirrhosis and hepatocellular carcinoma.
Blackburn P R, et al.
Human Mutation, 37(10), 1097-1105 (2016)
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong
Mak CM, et al.
Clinical Biochemistry, 46(1-2), 155-159 (2013)
Mercedes Barzi et al.
Nature communications, 15(1), 1955-1955 (2024-03-05)
Clinical translation of AAV-mediated gene therapy requires preclinical development across different experimental models, often confounded by variable transduction efficiency. Here, we describe a human liver chimeric transgene-free Il2rg-/-/Rag2-/-/Fah-/-/Aavr-/- (TIRFA) mouse model overcoming this translational roadblock, by combining liver humanization with
Mercedes Barzi et al.
Science translational medicine, 15(692), eadf4086-eadf4086 (2023-04-19)
Glutaric aciduria type I (GA-1) is an inborn error of metabolism with a severe neurological phenotype caused by the deficiency of glutaryl-coenzyme A dehydrogenase (GCDH), the last enzyme of lysine catabolism. Current literature suggests that toxic catabolites in the brain
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