FAH
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].
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Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
---|---|---|---|---|---|
OMIM IDMIM:613871 Ensembl IDEnsembl:ENSG00000103876 HGNC IDHGNC:HGNC:3579 PHARMGKB IDPA27977 Map Location15q25.1 |
GO terms in FAH
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Term Type | Evidence Type | GO Term ID | GO Des. |
---|---|---|---|
CC | TAS | GO:0005829 | cytosol |
CC | HDA | GO:0070062 | extracellular exosome |
BP | IEA | GO:0006527 | arginine catabolic process |
BP | IEA | GO:0006559 | L-phenylalanine catabolic process |
BP | TAS | GO:0006559 | L-phenylalanine catabolic process |
BP | IEA | GO:0006572 | tyrosine catabolic process |
Gene expression in normal tissue: FAH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FAH
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Database | Pathway ID | Pathway Des. |
---|---|---|
reactome | R-HSA-1430728 | Metabolism |
reactome | R-HSA-6788656 | Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism |
reactome | R-HSA-71182 | Phenylalanine and tyrosine catabolism |
reactome | R-HSA-71291 | Metabolism of amino acids and derivatives |
kegg | hsa00350 | Tyrosine metabolism - Homo sapiens (human) |
humancyc | TYRFUMCAT-PWY | tyrosine degradation |
Gene-Drug: Aster Plot
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Drug ID | Drug Name | Model Num. |
---|---|---|
iGMDRD353 | PD0325901 | 2 |
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Gene in drug-gene network: Network Plot

Gene-drug targets distribution
Gene Structure: PDB
Models in FAH
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Model | Level | Reference ID | Tissue | Cancer | Drug | Clinical Response | Source | |
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No matching records found |