User:Rhrth9/sandbox

Diagnosis
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.

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.

Topics to consider adding: –Genetic testing availability -mechanism of how ABCA1 protein functions normally and mutated