FAH
entrez
2184
canonical
uniprot
P16930
canonical
ensembl
ENSG00000103876
resolver
ensp
ENSP00000261755
resolver
ensp
ENSP00000385080
resolver
ensp
ENSP00000453347
resolver
genesymbol
FAH
resolver
hgnc
HGNC:3579
resolver
uniprot
A0A384P5L6
resolver
uniprot
B2R9X1
resolver
uniprot
D3DW95
resolver
uniprot
Q53XA7
resolver
uniprot_entry
A0A384P5L6_HUMAN
resolver
uniprot_entry
FAAA_HUMAN
resolver
uniprot_sec
B2R9X1
resolver
uniprot_sec
D3DW95
resolver
uniprot_sec
Q53XA7
resolver
amino_acid_sequence
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDTELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMELEMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLSVNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDGYRIGFGQCAGKVLPALLPS
uniprot
proteins
disease_involvement
DISEASE: Tyrosinemia 1 (TYRSN1) [MIM:276700]: An inborn error of metabolism characterized by elevations of tyrosine in the blood and urine, and hepatorenal manifestations. Typical features include hepatic necrosis, renal tubular injury, episodic weakness, self-mutilation, and seizures. Renal tubular dysfunction is associated with phosphate loss and hypophosphataemic rickets. Progressive liver disease can lead to the development of hepatocellular carcinoma. Dietary treatment with restriction of tyrosine and phenylalanine alleviates the rickets, but liver transplantation has so far been the only definite treatment. {ECO:0000269|PubMed:11196105, ECO:0000269|PubMed:11278491, ECO:0000269|PubMed:11476670, ECO:0000269|PubMed:1401056, ECO:0000269|PubMed:20003495, ECO:0000269|PubMed:7550234, ECO:0000269|PubMed:7757089, ECO:0000269|PubMed:7942842, ECO:0000269|PubMed:7977370, ECO:0000269|PubMed:8005583, ECO:0000269|PubMed:8318997, ECO:0000269|PubMed:8364576, ECO:0000269|PubMed:8557261, ECO:0000269|PubMed:8723690, ECO:0000269|PubMed:9101289, ECO:0000269|PubMed:9633815}. Note=The disease is caused by variants affecting the gene represented in this entry.
uniprot
proteins
ec_number
3.7.1.2
uniprot
proteins
function
FUNCTION: Catalyzes the final step in the breakdown of the amino acid tyrosine, converting fumarylacetoacetate into fumarate and acetoacetate. {ECO:0000250|UniProtKB:P35505}.
uniprot
proteins
mass_dalton
46374
uniprot
proteins
pathway_participation
PATHWAY: Amino-acid degradation; L-phenylalanine degradation; acetoacetate and fumarate from L-phenylalanine: step 6/6.
uniprot
proteins
protein_family
FAH family
uniprot
proteins
pubmed
11196105
uniprot
proteins
pubmed
11278491
uniprot
proteins
pubmed
11476670
uniprot
proteins
pubmed
1401056
uniprot
proteins
pubmed
14702039
uniprot
proteins
pubmed
15489334
uniprot
proteins
pubmed
16572171
uniprot
proteins
pubmed
17974005
uniprot
proteins
pubmed
1998338
uniprot
proteins
pubmed
20003495
uniprot
proteins
pubmed
21269460
uniprot
proteins
pubmed
2336361
uniprot
proteins
pubmed
24275569
uniprot
proteins
pubmed
25944712
uniprot
proteins
pubmed
27535533
uniprot
proteins
pubmed
7550234
uniprot
proteins
pubmed
7757089
uniprot
proteins
pubmed
7942842
uniprot
proteins
pubmed
7977370
uniprot
proteins
pubmed
8005583
uniprot
proteins
pubmed
8318997
uniprot
proteins
pubmed
8364576
uniprot
proteins
pubmed
8557261
uniprot
proteins
pubmed
8723690
uniprot
proteins
pubmed
9101289
uniprot
proteins
pubmed
9633815
uniprot
proteins
sequence_length
419
uniprot
proteins