FAHD2B Gene: Function, Expression, and Clinical Relevance | Biomedical Database

FAHD2B (fumarylacetoacetate hydrolase domain containing 2B) is a protein-coding gene located on chromosome 2q11.2. The encoded protein belongs to the FAH (fumarylacetoacetate hydrolase) superfamily, which is characterized by a conserved catalytic domain involved in hydrolase activity. While the exact physiological function of FAHD2B is not fully characterized, it is predicted to play a role in metabolic processes, potentially involving the hydrolysis of specific substrates. The gene is expressed in various tissues, with notable levels in the kidney and liver. Alterations in FAHD2B expression or function may be implicated in certain pathological conditions, although detailed clinical associations are still under investigation.

Tissue Expression

Cell Line Expression

Hotspot Mutations

Mutation functional classification

• Tyrosine metabolism (predicted

• based on FAH domain)

• Metabolic pathways (general)

The FAHD2B protein is a member of the fumarylacetoacetate hydrolase (FAH) superfamily, characterized by a conserved alpha/beta hydrolase fold. It is predicted to possess hydrolase activity, potentially acting on carbon-nitrogen bonds (other than peptide bonds). The protein is localized in the cytoplasm and may be involved in metabolic processes, particularly in the breakdown of aromatic amino acids. However, its specific substrates and physiological roles remain to be fully elucidated. Structural studies suggest the presence of a metal-binding site, likely coordinating a divalent cation essential for catalysis.