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FAH
Official Full Name
fumarylacetoacetate hydrolase
Background
This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
Synonyms
FAH; fumarylacetoacetate hydrolase (fumarylacetoacetase); fumarylacetoacetase; Fumarylacetoacetate hydrolase; Beta diketonase; FAA; Fumarylacetoacetate; beta-diketonase