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].
| Name | OMIM ID | Ensembl ID | HGNC ID | PHARMGKB ID | Map Location |
|---|---|---|---|---|---|
| fumarylacetoacetate hydrolase | MIM:613871 | Ensembl:ENSG00000103876 | HGNC:HGNC:3579 | PA27977 | 15q25.1 |
GO terms in FAH
| 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 |
| MF | EXP | GO:0004334 | fumarylacetoacetase activity |
| MF | IPI | GO:0005515 | protein binding |
| MF | IEA | GO:0046872 | metal ion binding |
Gene expression in normal tissue: FAH
Gene-model tissue-cancer distribution: Bubble Plot
Gene-drug pathway distribution
Pathways in FAH
| 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 |
| smpdb | SMP00006 | Tyrosine Metabolism |
| smpdb | SMP00008 | Phenylalanine and Tyrosine Metabolism |
| smpdb | SMP00169 | Alkaptonuria |
| smpdb | SMP00190 | Hawkinsinuria |
| smpdb | SMP00206 | Phenylketonuria |
| smpdb | SMP00218 | Tyrosinemia Type I |
| smpdb | SMP00369 | Tyrosinemia Type 2 (or Richner-Hanhart syndrome) |
| smpdb | SMP00370 | Tyrosinemia Type 3 (TYRO3) |
| smpdb | SMP00429 | Disulfiram Action Pathway |
| smpdb | SMP00494 | Tyrosinemia, transient, of the newborn |
| smpdb | SMP00498 | Dopamine beta-hydroxylase deficiency |
| smpdb | SMP00533 | Monoamine oxidase-a deficiency (MAO-A) |
| wikipathways | WP3925 | Amino Acid metabolism |
Gene in drug-gene network: Network Plot
Gene-drug targets distribution
Gene Structure: PDB
Models in FAH
CLASSFICATION
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