AIFM2
AIFM2
AIFM2 is a gene that encodes for the protein "Acyl-CoA thioesterase 13" in humans. This protein is involved in lipid metabolism and plays a crucial role in regulating fatty acid oxidation. The AIFM2 gene is located on chromosome 10 in humans.
Function
The AIFM2 protein functions as an acyl-CoA thioesterase, which catalyzes the hydrolysis of acyl-CoA esters to free fatty acids and coenzyme A. This process is essential for the breakdown of fatty acids and the generation of energy through beta-oxidation.
Clinical Significance
Mutations in the AIFM2 gene have been associated with various metabolic disorders, including mitochondrial dysfunction and fatty acid oxidation disorders. Dysregulation of AIFM2 expression can lead to impaired lipid metabolism and energy production in cells.
Role in Disease
Studies have shown that AIFM2 plays a critical role in maintaining mitochondrial function and protecting cells from oxidative stress. Dysfunctional AIFM2 has been linked to neurodegenerative diseases and metabolic disorders.
Research
Research on AIFM2 is ongoing to further understand its role in lipid metabolism and mitochondrial function. Scientists are investigating potential therapeutic strategies targeting AIFM2 to treat metabolic disorders and mitochondrial dysfunction.
References
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Contributors: Prab R. Tumpati, MD