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The LDLR gene resides on chromosome 19 at the band 19p13.2 and is split into 18 exons. [8] Exon 1 contains a signal sequence that localises the receptor to the endoplasmic reticulum for transport to the cell surface.
The members of the LDLR family are characterized by distinct functional domains present in characteristic numbers. These modules are: LDL receptor type A (LA) repeats of 40 residues each, displaying a triple-disulfide-bond-stabilized negatively charged surface; certain head-to-tail combinations of these repeats are believed to specify ligand ...
Suppression of receptor-binding domain of LRP LDLR is due to overexpression of LRPAP (the protein product of LRPAP gene). [13] LRP gives protection across LDL by LRPAP and its downregulation may be subjected for an elevation of LDL and Ab-related neuronal toxicity as LRP supports in binding of ligand and internalization of LRP ligands like apo ...
[8] [10] [11] As a member of the LDLR family, LRP1 contains cysteine-rich complement-type repeats, EGF (gene) repeats, β-propeller domains, a transmembrane domain, and a cytoplasmic domain. [9] The extracellular domain of LRP1 is the alpha-chain, which comprises four ligand -binding domains (numbered I-IV) containing two, eight, ten, and ...
YWTD repeats are four-stranded beta-propeller repeats found in low-density lipoprotein receptors (LDLR). The six YWTD repeats together fold into a six-bladed beta-propeller (InterPro: IPR011042). Each blade of the propeller consists of four antiparallel beta-strands; the innermost strand of each blade is labeled 1 and the outermost strand, 4.
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.
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.
Lipoprotein receptor-related proteins, low density lipoprotein receptor-related proteins or prolow-density lipoprotein receptor-related protein (), abbreviated LRP, are a group of proteins.