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FLASH GENE

Symbol

FAH

contributors: mct - updated : 06-04-2011

HGNC name	fumarylacetoacetate hydrolase (fumarylacetoacetase)
HGNC id	3579

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

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

RNA

TRANSCRIPTS	type	messenger

identification nb exons type bp product Protein kDa AA specific expression Year Pubmed NM_000137 14 - 1447 - 419 - 1994 8204664

EXPRESSION

Type

expressed in	(based on citations)
organ(s)	System Organ level 1 Organ level 2 Organ level 3 Organ level 4 Level Pubmed Species Stage Rna symbol Digestive liver       highly Urinary kidney       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