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Recent evidence indicates that the members of the LDL receptor gene family are active in the cell signalling pathways between specialized cells in many, if not all, multicellular organisms. [5] [6] There are seven members of the LDLR family in mammals, namely: LDLR; VLDL receptor ; ApoER2, or LRP8; Low density lipoprotein receptor-related protein 4
This protein belongs to the LDLR family and is made up of a number of functionally distinct domains, including 3 EGF-like domains, 7 LDL-R class A domains, and 6 LDL-R class B repeats. [ 14 ] The N-terminal domain of the LDL receptor, which is responsible for ligand binding, is composed of seven sequence repeats (~50% identical).
The role that is most commonly associated with this evolutionarily ancient gene family is the endocytosis and removal of low-density lipoprotein(LDL), the main carrier of cholesterol in the circulation of humans, by the liver. Indeed, the regulation of cholesterol homeostasis through this mechanism remains the sole known function of the family ...
Homozygotes have LDLR activity of less than 2%, while heterozygotes have defective LDL processing with receptor activity being 2–25%, depending on the nature of the mutation. Over 1000 different mutations are known. [4] There are five major classes of FH due to LDLR mutations: [12] Class I: LDLR is not synthesized at all.
Encoding (Low Density Lipoprotein Receptor-Related Protein Associated protein 1) LRPAP is a largely expressed gene, and a 357 amino acid protein thought as a chaperone binding and protecting the lipoproteins receptor-related proteins LRP1 and LRP2.
Mice with double knockouts in VLDLR and LDLR have higher serum triglyceride levels than those with only a knockout in the LDLR gene. In addition, LDLR knockout mice overexpressing VLDLR have decreased serum triglyceride levels. Although fat deposition is close to normal without VLDLR, its role gains importance when LDLR is deficient.
Low-density lipoprotein receptor-related protein 8 (LRP8), also known as apolipoprotein E receptor 2 (ApoER2), is a protein that in humans is encoded by the LRP8 gene. [5] [6] [7] ApoER2 is a cell surface receptor that is part of the low-density lipoprotein receptor family. These receptors function in signal transduction and endocytosis of ...
Oxidized low-density lipoprotein receptor 1 (Ox-LDL receptor 1) also known as lectin-type oxidized LDL receptor 1 (LOX-1) is a protein that in humans is encoded by the OLR1 gene. [ 5 ] [ 6 ] LOX-1 is the main receptor for oxidized LDL on endothelial cells , macrophages , smooth muscle cells , [ 7 ] and other cell types. [ 8 ]
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