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ABCD1 mutation

You have just learned about the gene ABCD1. It encodes the protein in charge of the normal transport of fats that keep brain and lung cells functioning normally. When these groups of fats are not broken down, they build up in the body and become toxic. This affects the adrenal glands (small glands on top of each kidney) and the insulation (myelin) that surrounds neurons, causing hormonal problems and deteriorating movement, vision, and hearing. More than 650 mutations in the ABCD1 gene have been found to cause X-linked adrenoleukodystrophy, a rare genetic disease.

Since you are going to be studying this gene in the coming exercises, it is important to remember where is located. If you are unsure, check the gene ABCD1 and its location using Ensembl genome browser.

Where is ABCD1 located?

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