推荐产品
生物来源
rabbit
质量水平
偶联物
unconjugated
抗体形式
IgG fraction of antiserum
抗体产品类型
primary antibodies
克隆
polyclonal
形式
buffered aqueous solution
分子量
46 kDa
种属反应性
dog, horse, human, mouse, rat
浓度
0.5-1 mg/mL
技术
immunoblotting: suitable
immunohistochemistry: suitable
登记号
NM_000137
UniProt登记号
运输
wet ice
储存温度
−20°C
靶向翻译后修饰
unmodified
基因信息
human ... FAH(2184)
一般描述
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
外形
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
免责声明
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.
WGK
WGK 3
闪点(°F)
Not applicable
闪点(°C)
Not applicable
法规信息
新产品
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)
Marco De Giorgi et al.
Molecular therapy. Methods & clinical development, 21, 656-669 (2021-06-19)
Clinical application of somatic genome editing requires therapeutics that are generalizable to a broad range of patients. Targeted insertion of promoterless transgenes can ensure that edits are permanent and broadly applicable while minimizing risks of off-target integration. In the liver
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)
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