Fumarylacetoacetate hydrolase

  • OMIM: 276700
  • UniProt: P16930
  • MGI: 95482

Fumarylacetoacetase (FAA, FAH ) is the name of the enzyme that hydrolyzes 4- fumarylacetoacetate in fumarate and acetoacetate. This reaction is the final step in the degradation of the amino acid tyrosine, and is performed in all living things. A deficiency or absence of the enzyme in humans leads to a metabolic disorder of tyrosinemia type I. cause is always a mutation in the FAH gene, which codes for the enzyme.

Biosynthesis

FAA is mainly formed in the liver and the kidneys, but also to a lesser extent in any other tissue. The FAH gene is located on chromosome 15 and 33,340 base pairs, and comprises 14 exons. MRNA produced by transcription of a length of 1447 bases whose translation results in a protein with 419 amino acids.

Catalyzed reaction

H2O →

Fumarylacetoacetate into fumarate and acetoacetate, is hydrolyzed, the enzyme also needs calcium and magnesium ions as cofactors. FAA is capable of, other 3,5 - and 2,4- hydrolyzing Dioxocarbonsäuren

Human Genome Organisation Mouse Genome Informatics Hydrolase Hydrolysis Organism Tissue (biology) Cofactor (biochemistry)
355783
de