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FLASH GENE
Symbol FAH contributors: mct - updated : 06-04-2011
HGNC name fumarylacetoacetate hydrolase (fumarylacetoacetase)
HGNC id 3579
Corresponding disease
FAHD FAH deficiency
Location 15q25.1      Physical location : 80.445.340 - 80.478.682
EC.number 3.7.1.2
DNA
TYPE functioning gene
STRUCTURE 33.34 kb     14 Exon(s)
10 Kb 5' upstream gene genomic sequence study
MAPPING cloned Y linked   status provisional
Physical map
CHRNA3 15q24 cholinergic receptor, nicotinic, alpha polypeptide 3 CHRNB4 15q24 cholinergic receptor, nicotinic, beta polypeptide 4 LOC390612 15 similar to ribosomal protein L18; 60S ribosomal protein L18 LOC388142 15 LOC388142 LOC390613 15 similar to Dynamin-1 (D100) (Dynamin, brain) (B-dynamin) ADAMTS7 15pter-qter a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 7 LOC390614 15 similar to cDNA sequence BC053073; G-protein coupled receptor SALPR; somatostatin and angiotensin-like peptide receptor LOC388143 15 similar to 60S ribosomal protein L21 MORF4L1 15q24 mortality factor 4 like 1 CTSH 15q24-q25 cathepsin H RASGRF1 15q24 Ras protein-specific guanine nucleotide-releasing factor 1 LOC390615 15 similar to HNRPC protein LOC390616 15 similar to RIKEN cDNA 6430502M16 gene P24B 15q24-q25 integral type I protein KIAA1024 15q24.2 KIAA1024 protein LOC390617 15 similar to Transcription factor DP-1 (E2F dimerization partner 1) (DRTF1-polypeptide-1) (DRTF1) LOC390618 15 similar to ribosomal protein L7-like 1 LOC390619 15 similar to zinc finger, FYVE domain containing 1 isoform 1; phosphoinositide-binding protein SR3; tandem FYVE fingers-1 protein; zinc finger protein, subfamily 2A, member 1; double FYVE-containing protein 1 MTHFS 15q24 5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase) LOC283687 15q24.3 hypothetical protein LOC283687 LOC390620 15 similar to Farnesyl pyrophosphate synthetase (FPP synthetase) (FPS) (Farnesyl diphosphate synthetase) BCL2A1 15q24.3 BCL2-related protein A1 HSPC073 15q24.3 HSPC073 protein AWP1 15q24 HSPC073 protein FAH 15q23-q25 fumarylacetoacetate hydrolase (fumarylacetoacetase) LOC388144 15 LOC388144 ARNT2 15q24-q25 aryl-hydrocarbon receptor nuclear translocator 2 LOC58489 15q24.3 hypothetical protein from EUROIMAGE 588495 KIAA1199 15q KIAA1199 protein MESDC2 15q13 mesoderm development candidate 2 MESDC1 15q13 mesoderm development candidate 1 FLJ38615 15q24.3 hypothetical protein FLJ38615 IL16 15q26.3 interleukin 16 (lymphocyte chemoattractant factor) STARD5 15q26 START domain containing 5 TMC3 15q24.3 transmembrane channel-like 3
RNA
TRANSCRIPTS type messenger
identificationnb exonstypebpproduct
ProteinkDaAAspecific expressionYearPubmed
14 - 1447 - 419 - 1994 8204664
EXPRESSION
Type
   expressed in (based on citations)
organ(s)
SystemOrgan level 1Organ level 2Organ level 3Organ level 4LevelPubmedSpeciesStageRna symbol
Digestiveliver   highly
Urinarykidney   highly
cell lineage
cell lines
fluid/secretion
at STAGE
PROTEIN
PHYSICAL PROPERTIES
STRUCTURE
motifs/domains
mono polymer homomer , dimer
HOMOLOGY
Homologene
FAMILY fumarylacetoacetate (FAA) hydrolase family
CATEGORY enzyme
SUBCELLULAR LOCALIZATION     intracellular
intracellular,cytoplasm,cytosolic
basic FUNCTION
  • catalyzing the fifth step of tyrosine catabolism
  • succinylacetone (SA) and p-hydroxyphenylpyruvate (pHPPA) accumulated in hereditary tyrosinemia, have an impairing effect on both BER (Base excision repair) and NER (nucleotide excision repair)
  • CELLULAR PROCESS
    PHYSIOLOGICAL PROCESS
    PATHWAY
    metabolism
    signaling
    a component
    INTERACTION
    DNA
    RNA
    small molecule
    protein
    cell & other
    REGULATION
    ASSOCIATED DISORDERS
    corresponding disease(s) FAHD
    Susceptibility
    Variant & Polymorphism
    Candidate gene
    Marker
    Therapy target
    ANIMAL & CELL MODELS