ABCD1
ABCD1 is a gene located on chromosome 21 that encodes a protein involved in the transport of certain fatty acids and other molecules into peroxisomes, which are cellular organelles responsible for breaking down fatty acids and detoxifying harmful substances. Mutations in the ABCD1 gene can lead to disorders such as X-linked adrenoleukodystrophy (X-ALD), a condition that affects the nervous system and adrenal glands.
The ABCD1 protein is part of the ATP-binding cassette (ABC) transporter family, which plays a crucial role in moving various substances across cellular membranes. Understanding the function of ABCD1 is important for developing potential therapies for conditions associated with its dysfunction, particularly in the context of X-ALD.