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Abetalipoproteinemia (also known as: Bassen–Kornzweig syndrome, microsomal triglyceride transfer protein deficiency disease, MTP deficiency, and betalipoprotein deficiency syndrome [2]) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food. [3]
Apolipoprotein B deficiency 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). This causes impairments in LDL catabolism, resulting in increased levels of low-density lipoprotein in the blood.
Apolipoprotein B is the primary apolipoprotein of chylomicrons, VLDL, Lp(a), IDL, and LDL particles (LDL—commonly known as "bad cholesterol" when in reference to both heart disease and vascular disease in general), which is responsible for carrying fat molecules , including cholesterol, around the body to all cells within all tissues. While ...
Pregnancy zone protein (PZP), also known as the pregnancy-associated α 2-glycoprotein (α 2-PAG or PAα 2 G), [5] is a protein which in humans is encoded by the PZP gene on chromosome 12. [6] PZP is part of the alpha-2 globulin family of proteins. [7] It is often associated with pregnancy, during which it can be the most abundant among the ...
LDL circulates and is absorbed by the liver and peripheral cells. Binding of LDL to its target tissue occurs through an interaction between the LDL receptor and apolipoprotein B-100 on the LDL particle. Absorption occurs through endocytosis, and the internalized LDL particles are hydrolyzed within lysosomes, releasing lipids, chiefly cholesterol.
Hypobetalipoproteinemia is a disorder consisting of low levels of LDL cholesterol or apolipoprotein B, [1] below the 5th percentile. [2] The patient can have hypobetalipoproteinemia and simultaneously have high levels of HDL cholesterol.
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Hypoalphalipoproteinemia is a high-density lipoprotein deficiency, inherited in an autosomal dominant manner. [1] It can be associated with LDL receptor. [2]