LDLR Gene - GeneCards | LDLR Protein | LDLR Antibody
Oct 2, 2024 · The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell.
LDL receptor - Wikipedia
In humans, the LDL receptor protein is encoded by the LDLR gene on chromosome 19. [6] [7] [8] It belongs to the low density lipoprotein receptor gene family. [9] It is most significantly expressed in bronchial epithelial cells and adrenal gland and cortex tissue. [10]
LDLR gene - MedlinePlus
The LDLR gene provides instructions for making a protein called the low-density lipoprotein receptor. This receptor binds to particles called low-density lipoproteins (LDLs), which are the primary carriers of cholesterol in the blood.
Familial Hypercholesterolemia - GeneReviews® - NCBI Bookshelf
Jan 2, 2014 · LDLR encodes low-density lipoprotein receptor (LDLR), a cell surface protein involved in endocytosis of low-density lipoprotein cholesterol (LDL-C). After LDL-C is bound at the cell membrane, it is taken into the cell and to lysosomes where the protein moiety is degraded and the cholesterol molecule suppresses cholesterol synthesis via negative ...
Familial Hypercholesterolemia: Genes and Beyond
Sep 23, 2024 · Genetic disorders resulting in familial hypercholesterolemia (FH) include autosomal dominant hypercholesterolemia (ADH), polygenic hypercholesterolemia, as well as other rare conditions such as autosomal recessive hypercholesterolemia (ARH).
LDLR low density lipoprotein receptor [ Homo sapiens (human) ]
Nov 2, 2024 · The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell.
Mutation type classification and pathogenicity assignment of …
Feb 3, 2020 · The primary genetic cause of familial hypercholesterolemia (FH) is related to mutations in the LDLR gene encoding the Low-density Lipoprotein Receptor. LDLR structure is organized in 5...
Low-Density Lipoprotein Receptor (LDLR) Family Orchestrates Cholesterol ...
LDLR is a cell membrane glycoprotein that functions in the binding and internalizing of circulating cholesterol-containing lipoprotein particles. LDLR is ubiquitously expressed and is a key receptor for maintaining cholesterol homeostasis in mammals.
Structure and physiologic function of the low-density lipoprotein receptor
The low-density lipoprotein receptor (LDLR) is responsible for uptake of cholesterol-carrying lipoprotein particles into cells. The receptor binds lipoprotein particles at the cell surface and releases them in the low-pH environment of the endosome.
Low-density lipoprotein receptor--its structure, function, and ...
Uptake of cholesterol, mediated by the low-density lipoprotein (LDL)-receptor, plays a crucial role in lipoprotein metabolism. The LDL-receptor is responsible for the binding and subsequent cellular uptake of apolipoprotein B- and E-containing lipoproteins.