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LDLR

Gene symbol LDLR
Aliases -
Protein Name Low-density lipoprotein receptor
Function Low-density lipoprotein receptor binds LDL, the major cholesterol-carrying lipoprotein of plasma, and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits.
Species Human
Editing Sites 1
Disease Acute Myeloid Leukemia;
Description Alternative RNA editing of l low density lipoprotein (LDL) receptor (R) gene leads to a new cryptic acceptor splice site 17 bp downstream in exon 8 producing a frameshift mutation and a predicted premature stop codon 1138 bp from the transcriptional start site. That cause skipping of exon 8 or the use of a novel cryptic acceptor splice site in exon 8 with a frameshift and premature stop codon. These changes lead to a marked reduction in LDL-R protein expressed in monocytes obtained from the Familial hypercholesterolemia patient.
RADR RADAR
REDIportal REDI portal
External links P01130(Uniport); NM_000527 (NM id); 3949 (NCBI gene id); GeneCard; GTEx
Sequence

Editing sites

Enzyme Editing type Region NT Seq Position Amino Acid Change Molecular Consequence Editing Level Tissue Editing Effect Phenotype Disease name PMID
  • NA
 G-to-C Intronic 1138 NA->* Alternative splicing Present Peripheral blood Skipping of exon 8 or the use of a novel cryptic acceptor splice site in exon 8 with a frameshift and premature stop codon leads to a marked reduction in LDL-R protein expressed in monocytes obtained from the familial hypercholesterolemia patient. Reduce hypercholesterolemia