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Official Full Name
fumarylacetoacetate hydrolase (fumarylacetoacetase)
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; FAA; beta-diketonase; FLJ51912; FLJ51912, FAH; fb59b12; zgc:55316; wu:fb59b12