Anti-Fumarylacetoacetate hydrolase/FAA antibody

Supplementary info

This supplementary information is collated from multiple sources and compiled automatically.

Activity summary

Fumarylacetoacetate hydrolase (FAH) sometimes known as FAA hydrolase is an enzyme involved in the last step of tyrosine degradation. It catalyzes the hydrolysis of fumarylacetoacetate into fumarate and acetoacetate facilitating the breakdown of amino acids. This enzyme typically has a molecular mass of around 46 kDa. FAH is mostly expressed in the liver and kidneys reflecting its role in detoxifying metabolic byproducts in these organs.

Biological function summary

FAH plays a critical role in the catabolism of the amino acid tyrosine. It functions as a monomer rather than part of a larger protein complex. The enzyme's activity ensures the conversion of potentially toxic intermediates into less harmful components that the body can either utilize or excrete. This conversion is essential for maintaining metabolic equilibrium and preventing the accumulation of toxic metabolites which can damage cells.

Pathways

FAH is integral to the tyrosine degradation pathway. The breakdown process involves several enzymes with FAH being the final step converting fumarylacetoacetate. Enzymes like homogentisate 12-dioxygenase which acts earlier in the pathway are related to FAH within this context. This pathway is important for energy production and the synthesis of important biomolecules making each step's function interconnected with cellular health and metabolism.

Associated diseases and disorders

Defects in FAH activity lead to hereditary tyrosinemia type I a metabolic disorder characterized by the accumulation of toxic intermediates due to disrupted tyrosine degradation. This disorder results in severe liver and kidney damage if not managed appropriately. Other proteins such as tyrosine aminotransferase can also be affected by analogous disruptions in the same metabolic pathway contributing to metabolic diseases when their function becomes impaired through the pathway's imbalances.