| General information | Literature | Expression | Regulation | Variant | Interaction |
Basic Information | |
|---|---|
Gene ID | 2184 |
Name | FAH |
Synonym | -;fumarylacetoacetate hydrolase (fumarylacetoacetase);FAH;fumarylacetoacetate hydrolase (fumarylacetoacetase) |
Definition | FAA|beta-diketonase|fumarylacetoacetase |
Position | 15q23-q25 |
Gene Type | protein-coding |
Pathways and Diseases | |
Pathway | Metabolism of amino acids and derivatives;Reactome;REACT:13 |
Pathway | tyrosine degradation I;BioCyc;TYRFUMCAT-PWY |
Pathway | Tyrosine metabolism;KEGG PATHWAY;hsa00350 |
Pathway | Metabolic pathways;KEGG PATHWAY;hsa01100 |
Disease | Tyrosinemia;KEGG DISEASE;H00165 |
Disease | Inherited disorders of amino acid metabolism;KEGG DISEASE |
Disease | Encephalopathies;FunDO |
Disease | Genetic disorders;KEGG DISEASE |
Disease | Tyrosinemia, type I;OMIM |
External Links | |
Links to Entrez Gene | 2184 |
Links to all GeneRIF Items | 2184 |
Links to iHOP | 2184 |
Sequence Information | |
Nucleotide Sequence | >2184 : length: 1260 atgtccttcatcccggtggccgaggattccgacttccccatccacaacctgccctacggc gtcttctcgaccagaggcgacccaagaccgaggataggtgtggccattggcgaccagatc ctggacctcagcatcatcaagcacctctttactggtcctgtcctctccaaacaccaggat gtcttcaatcagcctacactcaacagcttcatgggcctgggtcaggctgcctggaaggag gcgagagtgttcttgcagaacttgctgtctgtgagccaagccaggctcagagatgacacc gaacttcggaagtgtgcattcatctcccaggcttctgccacgatgcaccttccagccacc ataggagactacacagacttctattcctctcggcagcatgctaccaacgtcggaatcatg ttcagggacaaggagaatgcgttgatgccaaattggctgcacttaccagtgggctaccat ggccgtgcctcctctgtcgtggtgtctggcaccccaatccgaaggcccatgggacagatg aaacctgatgactctaagcctcccgtatatggtgcctgcaagctcttggacatggagctg gaaatggctttttttgtaggccctggaaacagattgggagagccgatccccatttccaag gcccatgagcacatttttggaatggtccttatgaacgactggagtgcacgagacattcag aagtgggagtatgtccctctcgggccattccttgggaagagttttgggaccactgtctct ccgtgggtggtgcccatggatgctctcatgccctttgctgtgcccaacccgaagcaggac cccaggcccctgccgtatctgtgccatgacgagccctacacatttgacatcaacctctct gttaacctgaaaggagaaggaatgagccaggcggctaccatatgcaagtccaattttaag tacatgtactggacgatgctgcagcagctcactcaccactctgtcaacggctgcaacctg cggccgggggacctcctggcttctgggaccatcagcgggccggagccagaaaacttcggc tccatgttggaactgtcgtggaagggaacgaagcccatagacctggggaatggtcagacc aggaagtttctgctggacggggatgaagtcatcataacagggtactgccagggggatggt taccgcatcggctttggccagtgtgctggaaaagtgctgcctgctctcctgccatcatga |
Protein Sequence | >2184 : length: 419 MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQD VFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPAT IGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQM KPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQ KWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFG SMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS |