Reactome | FAH cleaves 4FAA

FAH cleaves 4FAA

Stable Identifier

R-HSA-71181

Type

Reaction [transition]

Species

Homo sapiens

Compartment

cytosol

Synonyms

4-fumarylacetoacetate + H2O => acetoacetate + fumarate + H(+), fumarylacetoacetate => fumarate + acetoacetate

ReviewStatus

5/5

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This is the final step of tyrosine degradation. Fumarylacetoacetase catalyzes the hydrolysis of 4-fumarylacetoacetate (4FAA) to form fumarate and acetoacetate. The enzyme is a homodimer, with each monomer binding one Ca(2+) and one Mg(2+) ion as catalytic cofactors, as shown in a mouse structure (Hsiang et al., 1972; Labelle et al. 1993; Bateman et al., 2001). FAH deficiency leads to tyrosinemia type I (TYRSN1, MIM:276700) characterized by 4FAA accumulation with severe metabolic effects (reviewed in Pitkänen et al., 2000; Scott, 2006).

Literature References

PubMed ID	Title	Journal	Year
11127930	Hereditary tyrosinaemia type I: from basics to progress in treatment Pitkänen, ST, Salo, MK, Heikinheimo, M	Ann Med	2000
8364576	Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity. Labelle, Y, Phaneuf, D, Leclerc, B, Tanguay, RM	Hum Mol Genet	1993
16602095	The genetic tyrosinemias Scott, CR	Am J Med Genet C Semin Med Genet	2006
5027618	Purification and properties of a diketo acid hydrolase from beef liver Hsiang, HH, Sim, SS, Mahuran, DJ, Schmidt, DE	Biochemistry	1972