LDLR


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LDLR

A gene on chromosome 19p13.2 that encodes a cell surface protein involved in receptor-mediated endocytosis of low-density lipoprotein (LDL), the major cholesterol-carrying lipoprotein of plasma, which it transports into cells by endocytosis. Internalisation of the receptor-ligand complex requires clustering into clathrin-coated pits.
References in periodicals archive ?
The results of real-time PCR showed that over- expression of SSBP1 inhibited the expression of LDLR and SCARB, while knockdown of SSBP1 significantly promoted the mRNA expression of LDLR, HMGR, CETP and SCARB.
After 2-3 weeks, when remyelination of the regenerating axons begins, the Schwann cells are depleted of lipids and begin to express LDLR to capture that cholesterol mobilized along with apoE from the macrophages.
The LDLR SNP was only associated in our obese population and has not been identified in previous studies.
Amplified fragments from genomic DNA comprising all exons of the LDLR gene were analyzed for mutations by PCR and automated sequencing.
12) The promoter and the 18 exons of the LDLR gene (including about 50 bp of the intronic boundaries) and APOB gene regions (exons 26 and 29) were mutations causing FDB have been described were analyzed.
Regarding the cell membrane receptors involved in the uptake of lipoproteins, the gene expression of the LDLR was roughly ten-fold higher in the heart grafts of both control and LDE-MTX treated groups of rabbits compared to the native hearts of the control animals.
However, a recent study that sequenced the 3 genes LDLR, apolipoprotein B (APOB), and proprotein convertase subtilisin/kexin type 9 (PCSK9) in 26025 individuals from several coronary artery disease, control and prospective cohorts identified FH mutations in <2% of participants with LDL-C [greater than or equal to]190 mg/dL, though this proportion could be increased by assessing structural variants, additional missense variants not classified as pathogenic, and polygenic SNPs.
Familial hypercholesterolemia (FH) is a genetic disorder associated with autosomal dominant mutations in any of 3 genes namely LDLR, ApoB, and PCSK9.
Studies in human hepatocytes have also shown that resistin levels [greater than or equal to] 25 ng/mL inhibit LDLR expression [17].
Hofker, "Understanding hyperlipidemia and atherosclerosis: lessons from genetically modified apoe and LDLR mice," Clinical Chemistry and Laboratory Medicine, vol.
Mutation analysis in familial hypercholesterolaemia patients of different ancestries: Identification of three novel LDLR gene mutations.