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WormBase Tree Display for Disease_model_annotation: WBDOannot00001215

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Name Class

WBDOannot00001215Disease_termDOID:0050726
Disease_of_speciesHomo sapiens
Modeled_byGenotypeWBGenotype00000122
Association_typeis_model_of
Evidence_codeGO_codeIMP
ECO_termECO:0007013
Genetic_sexhermaphrodite
Paper_evidenceWBPaper00064111
Disease_model_descriptionType 1 Tyrosinemia (HT1) is a rare genetic disorder stemming from mutations in the tyrosine catabolism enzyme fumarylacetoacetate hydrolase (FAH) and has been modeled in fah-1 mutant animals in C. elegans with several phenotypes including the activation of SKN-1/NRF2. A tandem knockdown of fah-1 and tatn-1 significantly rescued body size and suppressed SKN-1 activation in comparison to fah-1 knockdown alone. This data confirms that other tyrosine catabolism enzymes affect the physiological phenotypes of fah-1 models.
Curator_confirmedWBPerson324
Date_last_updated03 Jun 2022 00:00:00