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[edit]Tangier disease (TD) can be detected through genetic screenings for a mutation on the ABCA1 protein in chromosome 9q31. However, this mutation can be difficult to detect so most diagnosis are based on clinical features the patient shows. [1]
The ABCA1 protein consists of two six trans-membrane domains that are connected to each other by a highly hydrophobic region. Mutations occur usually near the first trans-membrane domain of the protein and can cause inactivation of the protein as a whole. Inactivation of ABCA1 protein can lead to several symptoms listed above. [1]
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Topics to consider adding: –Genetic testing availability -mechanism of how ABCA1 protein functions normally and mutated