ABCD1

Description

The ABCD1 gene provides instructions for making a protein called adrenoleukodystrophy protein (ALDP). This protein is crucial for the proper functioning of peroxisomes, small organelles within cells responsible for breaking down fatty acids. ALDP acts as a transporter, moving very long-chain fatty acids (VLCFAs) into peroxisomes, where they are metabolized. Mutations in the ABCD1 gene can disrupt this process, leading to a buildup of VLCFAs in the body, which can damage the brain, adrenal glands, and other tissues.

Associated Diseases

• X-linked adrenoleukodystrophy (X-ALD): A severe, progressive neurodegenerative disorder that affects the brain, adrenal glands, and other organs. It is the most common form of adrenoleukodystrophy.
• Adrenomyeloneuropathy (AMN): A milder form of X-ALD that primarily affects the spinal cord and peripheral nerves.
• Childhood cerebral adrenoleukodystrophy (CCALD): A severe, rapidly progressing form of X-ALD that typically affects young boys.
• Addison‘s disease: A disorder characterized by insufficient production of cortisol and aldosterone by the adrenal glands.
• Neurological disorders: Some individuals with mutations in the ABCD1 gene may experience other neurological disorders, such as seizures and cognitive impairment.

Did you know?

The ABCD1 gene is located on the X chromosome, which is why X-ALD primarily affects males.