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Gene Protein Transcript Promoter Expression GO/PPI PubMed Cross reference

Gene information for LDLR (Homo sapiens)
(Information is obtained from NCBI Gene database)
Entrez gene ID3949
Official gene symbolLDLR
Full namelow density lipoprotein receptor
Aliases,FH,FHC,LDLCQ2,
Gene summaryThe low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. Low density lipoprotein (LDL) is normally bound at the cell membrane and taken into the cell ending up in lysosomes where the protein is degraded and the cholesterol is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.
LocationChromosome: 19   Locus: 19p13.3
Gene position11200057 - 11244506  Map Viewer
Gene orientationplus
Gene size44450 bp
Gene sequence
OMIM ID606945