ALDH18A1 : aldehyde dehydrogenase 18 family member A1
Description
The ALDH18A1 gene encodes the enzyme 18-kDa mitochondrial aldehyde dehydrogenase (ALDH18A1). This enzyme plays a crucial role in lipid metabolism, particularly in the degradation of branched-chain fatty acids (BCFAs). BCFAs are essential components of cell membranes and have various metabolic functions. ALDH18A1 catalyzes the oxidation of branched-chain fatty acyl-CoA to their corresponding branched-chain fatty acids, a crucial step in their breakdown. This process is essential for maintaining energy homeostasis and proper cellular function.
Associated Diseases
- Biotinidase deficiency:A rare metabolic disorder characterized by the inability to break down biotin, a crucial vitamin for various metabolic processes. Mutations in ALDH18A1 can cause a milder form of biotinidase deficiency.
- Multiple acyl-CoA dehydrogenase deficiency (MADD):A rare, severe metabolic disorder that affects the breakdown of fatty acids, including BCFAs. Mutations in ALDH18A1 can contribute to the development of MADD.
- Neurological disorders:Some studies have suggested a possible link between mutations in ALDH18A1 and certain neurological disorders, though further research is needed to establish a definitive connection.
Did you know?
ALDH18A1 is also involved in the metabolism of certain drugs and toxins, highlighting its broader role in detoxification processes.
