What genes are related to X-linked adrenoleukodystrophy?
Mutations in the ABCD1 gene cause X-linked adrenoleukodystrophy. The ABCD1 gene provides instructions for producing the adrenoleukodystrophy protein (ALDP), which is involved in transporting molecules into peroxisomes. Peroxisomes are small sacs within cells that process many types of molecules. Inside peroxisomes, ALDP is thought to play a role in the breakdown of certain fats (very long-chain fatty acids or VLCFAs). ABCD1 gene mutations result in a shortage (deficiency) of ALDP. When this protein is lacking, the breakdown of very long-chain fatty acids is disrupted, causing abnormally high levels of these fats in the body. The accumulation of very long-chain fatty acids may be toxic to the adrenal cortex and the myelin membranes that surround many of the nerves in the brain and spinal cord. Read more about the ABCD1 gene.
