QuickView for LDLR (gene)

Gene Symbol:

LDLR Homo sapiens

Full name:

low density lipoprotein receptor

Synonyms:

FH, FHC, LDLCQ2, low-density lipoprotein receptor, LDL receptor, low-density lipoprotein receptor class A domain-containing protein 3

Genomic Location:

Chr 19: 11061132-11105490

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 repressio...

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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.

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Orthologs:

Mus musculus ,  Rattus norvegicus ,  Macaca mulatta ,  Bos taurus ,  Danio rerio ,  Gallus gallus ,  Pan troglodytes

External Links:

Entrez Gene

Transcription Factor
Binding Sites:

TTGCACT_MIR130A_MIR301_MIR130B ,  SREBP1_Q6 ,  GGGAGGRR_MAZ_Q6 ,  TGCACTG_MIR148A_MIR152_MIR148B ,  GCACTTT_MIR175P_MIR20A_MIR106A_MIR106B_MIR20B_MIR519D ,  SREBP_Q3

miRNA binding sites
(Source: TargetScan):

Predicted Gene Targets for miR-130 ,  Predicted Gene Targets for miR-148 ,  Predicted Gene Targets for miR-20

Cytogenetic Map:

19p13.2

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