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Gene: LDLR (low density lipoprotein receptor) Homo sapiens
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Symbol: LDLR
Name: low density lipoprotein receptor
Description: The 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.[provided by RefSeq, Sep 2010]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: FH; FHC; FHCL1; LDL receptor; LDLCQ2; low-density lipoprotein receptor; low-density lipoprotein receptor class A domain-containing protein 3
Orthologs:
Mus musculus (house mouse) : Ldlr (low density lipoprotein receptor)  MGI  Alliance
Rattus norvegicus (Norway rat) : Ldlr (low density lipoprotein receptor)  Alliance
Chinchilla lanigera (long-tailed chinchilla) : Ldlr (low density lipoprotein receptor)
Pan paniscus (bonobo/pygmy chimpanzee) : LDLR (low density lipoprotein receptor)
Canis lupus familiaris (dog) : LDLR (low density lipoprotein receptor)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Ldlr (low density lipoprotein receptor)
Sus scrofa (pig) : LDLR (low density lipoprotein receptor)
more info ...
Allele / Splice: See ClinVar data
Is Marker For: QTLs:   BP50_H  
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381911,089,432 - 11,133,820 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371911,200,037 - 11,244,506 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361911,061,132 - 11,105,490 (+)NCBINCBI36hg18NCBI36
Build 341911,061,131 - 11,105,490NCBI
Celera1911,094,887 - 11,139,322 (+)NCBI
Cytogenetic Map19p13.2NCBI
HuRef1910,777,128 - 10,820,847 (+)NCBIHuRef
CHM1_11911,201,264 - 11,245,760 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model