FAH cleaves 4FAA

Stable Identifier
R-HSA-71181
Type
Reaction [transition]
Species
Homo sapiens
Compartment
Synonyms
fumarylacetoacetate => fumarate + acetoacetate
ReviewStatus
5/5
Locations in the PathwayBrowser
General
SVG |   | PPTX  | SBGN
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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

Heikinheimo, M, Pitkänen, ST, Salo, MK

Ann Med 2000
8364576 Characterization of the human fumarylacetoacetate hydrolase gene and identification of a missense mutation abolishing enzymatic activity.

Phaneuf, D, Leclerc, B, Labelle, Y, 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, Schmidt, DE, Mahuran, DJ

Biochemistry 1972
Participants
Participates
Catalyst Activity

fumarylacetoacetase activity of FAH dimer [cytosol]

Orthologous Events
Cross References
RHEA
Rhea
Authored
Reviewed
Cite Us!