Final answer:
Tangier Disease is characterized by a lack of high-density lipoprotein (HDL) and the absence of the ABCA1 protein. This leads to accumulation of cholesterol in tissues and low HDL levels in the bloodstream.
Step-by-step explanation:
Characteristics of Tangier Disease include a low or absence of HDL (high-density lipoprotein) and the absence of the ABC1 protein. This rare condition results from a genetic mutation affecting cholesterol transport and high-density lipoprotein (HDL) biosynthesis. Due to a defect in ABC1 function, no chylomicrons, VLDL (very low-density lipoprotein), or LDL (low-density lipoprotein) are properly formed because the mutation prevents the loading of apo B, which is the main apolipoprotein of LDL, with lipid. Consequently, patients with Tangier Disease struggle with the transport of cholesterol out of cells, leading to its accumulation in various tissues. This condition also results in low levels of HDL cholesterol, the 'good' cholesterol, which helps remove excess cholesterol from the bloodstream.