Gene Symbol | FAH |
Entrez Gene ID | 2184 |
Full Name | fumarylacetoacetate hydrolase |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes the last enzyme in the tyrosine catabolism pathway. FAH deficiency is associated with Type 1 hereditary tyrosinemia (HT). [provided by RefSeq, Jul 2008]. |
Disorder MIM: | |
Disorder Html: | Tyrosinemia, type I, 276700 (3) |