Anti-FAH

产品说明

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 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).
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.

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.

产品性质

安全信息