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MGP001029

Record overview

MGPD IDMGP001029
Gene ID2184
SpeciesHomo sapiens (Human)
Gene Namefumarylacetoacetate hydrolase (fumarylacetoacetase)
Gene Symbol FAH
Alternate namesfumarylacetoacetase; FAA; beta-diketonase;
Chromosome15
Map Location15q25.1
EC Number3.7.1.2
SummaryThis 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]
OrthologsView orthologs and multiple alignments for FAH

Proteins

fumarylacetoacetase
Refseq ID:NP_000128
Protein GI:4557587
UniProt ID:P16930
mRNA ID:NM_000137
Length:419
RefSeq Status:
MSFIPVAEDSDFPIHNLPYGVFSTRGDPRPRIGVAIGDQILDLSIIKHLFTGPVLSKHQDVFNQPTLNSFMGLGQAAWKEARVFLQNLLSVSQARLRDDT
ELRKCAFISQASATMHLPATIGDYTDFYSSRQHATNVGIMFRDKENALMPNWLHLPVGYHGRASSVVVSGTPIRRPMGQMKPDDSKPPVYGACKLLDMEL
EMAFFVGPGNRLGEPIPISKAHEHIFGMVLMNDWSARDIQKWEYVPLGPFLGKSFGTTVSPWVVPMDALMPFAVPNPKQDPRPLPYLCHDEPYTFDINLS
VNLKGEGMSQAATICKSNFKYMYWTMLQQLTHHSVNGCNLRPGDLLASGTISGPEPENFGSMLELSWKGTKPIDLGNGQTRKFLLDGDEVIITGYCQGDG
YRIGFGQCAGKVLPALLPS
 
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