Tangier disease is caused by a mutation on the ABCA1 gene located on the 9th chromosome as shown below. The ABCA1 gene is located on the long arm (the longer half of the chromosome) of the chromosome at location 31.1.
In general, humans have 23 chromosomes, including two sex-linked chromosomes. As you can see below, all of these chromosomes look quite different from one another, with different shapes, lengths, and curves.
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| https://ghr.nlm.nih.gov/primer/illustrations/chromosomes.jpg |
All of these chromosomes contain genes, or sections of the chromosome that code for certain proteins to do jobs throughout the body. The removal or addition of a chromosome (as is the case with down syndrome) can lead to devastating effects. Even just the mutation or rearrangement of the components that make up a small gene on a chromosome (as is the case with Tangier disease) can lead to serious illness or even death.
All in all, it is very impressive that most of the time, this process goes off without a hitch and we end up with fully healthy and functioning chromosomes.
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