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FAH encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT).
Gene Name: | fumarylacetoacetate hydrolase (fumarylacetoacetase) |
Synonyms: | FAH, Beta-diketonase, Fumarylacetoacetase, Fumarylacetoacetate hydrolase, FAA |
Target Sequences: | NM_000137 NP_000128.1 P16930 |
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