The FAH gene is mapped to human chromosome 15q25.1. The encoded protein consists of 419 amino acids and 14 coding exons.
Immunogène
Synthetic peptide directed towards the C terminal region of human FAH
Actions biochimiques/physiologiques
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).
Séquence
Synthetic peptide located within the following region: AATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG
Forme physique
Purified antibody supplied in 1x PBS buffer with 0.09% (w/v) sodium azide and 2% sucrose.
Clause de non-responsabilité
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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Code de la classe de stockage
10 - Combustible liquids
Classe de danger pour l'eau (WGK)
WGK 3
Point d'éclair (°F)
Not applicable
Point d'éclair (°C)
Not applicable
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