full name
low density lipoprotein receptor

synonyms
FH, FHC, LDLCQ2, LDLR, ENSG00000130164

HGNC
HGNC:6547

Entrez Gene
Gene:3949

ENSEMBL
ENSG00000130164

location
chr: 19
start: 11200037
stop: 11244506
strand: +

OMIM
OMIM:606945: LDLR
OMIM:143890: Hypercholesterolemia, familial, 1
OMIM:143890: LDL cholesterol level QTL2

transcripts
NM_000527.4
NM_001195798.1
NM_001195803.1
NM_001195800.1
NM_001195799.1

pathways
Aldosterone synthesis and secretion [NCBI:1272485] [KEGG:hsa04925] [PUBMED:15044681] [PUBMED:10536682] [PUBMED:24944029] [PUBMED:25788893] [PUBMED:15026188] [PUBMED:22689262] [PUBMED:22364774] [PUBMED:18406824] [PUBMED:14645496] [PUBMED:21839803] [PUBMED:22395411] [PUBMED:23628605] [PUBMED:21962440]
Bile secretion [NCBI:193146] [KEGG:hsa04976] [PUBMED:11826283] [PUBMED:19273385] [PUBMED:12663868] [PUBMED:15758646] [PUBMED:18837079] [PUBMED:15975683] [PUBMED:17404808] [PUBMED:18377365] [PUBMED:16706681] [PUBMED:10728790] [PUBMED:14659471] [PUBMED:18670431] [PUBMED:12483266] [PUBMED:19273238] [PUBMED:18668439] [PUBMED:18371245] [PUBMED:14999673] [PUBMED:11316487] [PUBMED:18081658] [PUBMED:19482594] [PUBMED:20103563]
Cargo recognition for clathrin-mediated endocytosis [NCBI:1427859] [REACTOME:R-HSA-8856825] [PUBMED:24186068] [PUBMED:12952941] [PUBMED:19696796] [PUBMED:14985334] [PUBMED:20448150] [PUBMED:20485680] [PUBMED:16382132] [PUBMED:23482940] [PUBMED:16870701]
Chylomicron-mediated lipid transport [NCBI:1270006] [REACTOME:R-HSA-174800]
Clathrin-mediated endocytosis [NCBI:1427858] [REACTOME:R-HSA-8856828] [PUBMED:16516836] [PUBMED:15339664] [PUBMED:19754444] [PUBMED:8552632] [PUBMED:21779028] [PUBMED:12353027] [PUBMED:23891661] [PUBMED:21613550] [PUBMED:20059951] [PUBMED:21447041] [PUBMED:17620409] [PUBMED:16903783] [PUBMED:21445324] [PUBMED:19696798] [PUBMED:26246598] [PUBMED:25085911] [PUBMED:24186068] [PUBMED:26829388] [PUBMED:27092250] [PUBMED:24581490] [PUBMED:26042225] [PUBMED:23823722] [PUBMED:24789820] [PUBMED:9736607] [PUBMED:23637288] [PUBMED:22233676] [PUBMED:19458185] [PUBMED:26403691] [PUBMED:19296720] [PUBMED:15703209] [PUBMED:20428113] [PUBMED:8953040] [PUBMED:1177317] [PUBMED:9092476] [PUBMED:26872272] [PUBMED:19092055]
Endocytosis [NCBI:102279] [KEGG:hsa04144] [PUBMED:19696797] [PUBMED:19007773] [PUBMED:16203612] [PUBMED:15687999] [PUBMED:19924646] [PUBMED:15261671] [PUBMED:18647649] [PUBMED:19325624] [PUBMED:20110990] [PUBMED:22193161]
Hepatitis C [NCBI:173973] [KEGG:hsa05160] [PUBMED:19708811] [PUBMED:16314558] [PUBMED:17467654] [PUBMED:19515018] [PUBMED:18514579] [PUBMED:16107833] [PUBMED:19074178] [PUBMED:12691459] [PUBMED:15302943] [PUBMED:20537953] [PUBMED:11991644] [PUBMED:19148799] [PUBMED:19187070] [PUBMED:12655344]
LDL-mediated lipid transport [NCBI:1270008] [REACTOME:R-HSA-171052] [PUBMED:2088165] [PUBMED:15952897]
Lipid digestion, mobilization, and transport [NCBI:1270002] [REACTOME:R-HSA-73923]
Lipoprotein metabolism [NCBI:1270005] [REACTOME:R-HSA-174824]
Membrane Trafficking [NCBI:1269877] [REACTOME:R-HSA-199991] [PUBMED:11031247]
Metabolism [NCBI:1269956] [REACTOME:R-HSA-1430728]
Metabolism of fat-soluble vitamins [NCBI:1339147] [REACTOME:R-HSA-6806667] [PUBMED:22516726] [PUBMED:15951480] [PUBMED:16011460]
Metabolism of lipids and lipoproteins [NCBI:1270001] [REACTOME:R-HSA-556833]
Metabolism of vitamins and cofactors [NCBI:1270144] [REACTOME:R-HSA-196854]
Ovarian steroidogenesis [NCBI:790011] [KEGG:hsa04913] [PUBMED:11883103] [PUBMED:11408113] [PUBMED:16603089] [PUBMED:15831519] [PUBMED:11447221] [PUBMED:20628033] [PUBMED:10630400] [PUBMED:18440223] [PUBMED:20937107] [PUBMED:11704115] [PUBMED:17003287] [PUBMED:17008391] [PUBMED:15541573] [PUBMED:21862696] [PUBMED:16414178] [PUBMED:14769828]
Retinoid metabolism and transport [NCBI:1269624] [REACTOME:R-HSA-975634] [PUBMED:16011460] [PUBMED:11340090]
Signal Transduction [NCBI:1269379] [REACTOME:R-HSA-162582] [PUBMED:17604717] [PUBMED:19648010] [PUBMED:16260143] [PUBMED:11742412] [PUBMED:19536106] [PUBMED:15863030] [PUBMED:19379690] [PUBMED:19458711] [PUBMED:19935667] [PUBMED:21252999] [PUBMED:15520807] [PUBMED:17496910] [PUBMED:15450248] [PUBMED:18043707] [PUBMED:16939974] [PUBMED:19762341] [PUBMED:18483217] [PUBMED:17084981] [PUBMED:21781017] [PUBMED:19619488]
Toxoplasmosis [NCBI:169642] [KEGG:hsa05145] [PUBMED:18617274] [PUBMED:19400868] [PUBMED:17024357] [PUBMED:19744886] [PUBMED:19891610] [PUBMED:17110955] [PUBMED:12106793] [PUBMED:12580944] [PUBMED:12857995] [PUBMED:10234174] [PUBMED:18327664] [PUBMED:10525166] [PUBMED:18059289] [PUBMED:18775432] [PUBMED:14642303] [PUBMED:15361242] [PUBMED:16339966] [PUBMED:14987366] [PUBMED:15639739]
Vesicle-mediated transport [NCBI:1269876] [REACTOME:R-HSA-5653656]
Visual phototransduction [NCBI:1269623] [REACTOME:R-HSA-2187338] [PUBMED:15384919] [PUBMED:22074928] [PUBMED:20188572] [PUBMED:21111842] [PUBMED:16688755] [PUBMED:8382952] [PUBMED:22658984] [PUBMED:20430952] [PUBMED:21350678] [PUBMED:22074927] [PUBMED:16011460] [PUBMED:11340090]