ACOX1 : acyl-CoA oxidase 1
Description
The peroxisomal straight-chain acyl-CoA oxidase (ACOX1) gene provides instructions for making an enzyme of the same name. This enzyme is found in sac-like cell structures (organelles) called peroxisomes, which contain a variety of enzymes that break down different substances. One of the roles of ACOX1 is to help break down certain fat molecules called very long-chain fatty acids (VLCFAs) through a process known as the peroxisomal fatty acid beta-oxidation pathway. This pathway shortens VLCFA molecules by two carbon atoms at a time until they are converted to acetyl-CoA, which can then be used by the cell for energy production.
Associated Diseases
Mutations in the ACOX1 gene can lead to a rare inherited disorder called X-linked adrenoleukodystrophy (X-ALD). X-ALD primarily affects males and is characterized by the progressive destruction of myelin, the protective sheath that surrounds nerve fibers in the brain and spinal cord. This damage to the nervous system can lead to a wide range of neurological symptoms, including difficulty walking, muscle weakness, vision problems, and cognitive impairment.
Did you Know ?
X-ALD affects approximately 1 in 17,000 males worldwide, making it a relatively rare condition. However, it is the most common inherited disorder of peroxisomes.
