FAHD1

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The FAHD1 (Fumarylacetoacetate Hydrolase Domain Containing 1) gene encodes an enzyme that belongs to the fumarylacetoacetate hydrolase (FAH) family. This family of enzymes is involved in the catabolic breakdown of amino acids, particularly tyrosine and phenylalanine.

Key Points about FAHD1:

1. Location and Structure:

   • Chromosomal Location: FAHD1 is located on chromosome 15q22.31 in humans.
   • Protein Structure: The protein encoded by FAHD1 contains a fumarylacetoacetate hydrolase domain, which is crucial for its enzymatic activity.

2. Function:

   • Metabolic Role: FAHD1 functions as an enzyme involved in the hydrolysis of fumarylacetoacetate, a key intermediate in the catabolic pathway of tyrosine and phenylalanine. This process is essential for the breakdown and utilization of these amino acids.
   • Cellular Processes: FAHD1 is also implicated in various cellular processes, including mitochondrial function and energy metabolism.

3. Expression:

   • FAHD1 is expressed in a variety of tissues, reflecting its role in fundamental metabolic pathways. Its expression levels can vary depending on the tissue type and metabolic demands.

4. Clinical Relevance:

   • Metabolic Disorders: Given its role in amino acid metabolism, dysfunctions or mutations in FAHD1 could potentially contribute to metabolic disorders, although specific disorders directly linked to FAHD1 mutations are not well-characterized.
   • Mitochondrial Function: Research suggests that FAHD1 might play a role in mitochondrial function, and alterations in its activity could impact cellular energy metabolism.