Tags: Disease.
Apolipoprotein B deficiency (also known as Familial defective apolipoprotein B-100) is an autosomal dominant disorder resulting from a missense mutation which reduces the affinity of apoB-100 for the low-density lipoprotein receptor (LDL Receptor) (see native LDL-ApoB structure at 37°C on YouTube) . This causes impairments in LDL catabolism resulting in increased levels of low-density lipoprotein in the blood.