Identity
HGNC
LOCATION
19p13.2
LOCUSID
ALIAS
FH,FHC,FHCL1,LDLCQ2
FUSION GENES
Non-annotated gene. Preliminary data : if you are an author who wish to write a full paper/card on this gene, contribute in submission tool
Other Information
Locus ID:
NCBI: 3949
MIM: 606945
HGNC: 6547
Ensembl: ENSG00000130164
Variants:
dbSNP: 3949
ClinVar: 3949
TCGA: ENSG00000130164
COSMIC: LDLR
RNA/Proteins
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
PharmGKB
| Entity ID | Name | Type | Evidence | Association | PK | PD | PMIDs |
|---|---|---|---|---|---|---|---|
| PA164749390 | peginterferon alfa-2a | Chemical | ClinicalAnnotation | associated | PD | 21572301 | |
| PA164784024 | peginterferon alfa-2b | Chemical | ClinicalAnnotation | associated | PD | 21572301 | |
| PA166114922 | lomitapide | Chemical | LabelAnnotation | associated | |||
| PA166114927 | mipomersen | Chemical | LabelAnnotation | associated | |||
| PA166114942 | familial hypercholesterolemia | Disease | DataAnnotation, Literature, MultilinkAnnotation | associated | 23788249 | ||
| PA166159961 | alirocumab | Chemical | LabelAnnotation | associated | |||
| PA166160027 | evolocumab | Chemical | LabelAnnotation | associated | |||
| PA38617 | PCSK9 | Gene | DataAnnotation | associated | |||
| PA443797 | Coronary Disease | Disease | VariantAnnotation | associated | PD | ||
| PA444552 | Hypertension | Disease | ClinicalAnnotation | associated | PD | ||
| PA446021 | Vascular Diseases | Disease | ClinicalAnnotation | associated | PD | ||
| PA446863 | Hepatitis C, Chronic | Disease | ClinicalAnnotation | associated | PD | 21572301 | |
| PA447230 | HIV | Disease | ClinicalAnnotation | associated | PD | 21572301 | |
| PA448499 | atenolol | Chemical | ClinicalAnnotation | associated | PD | ||
| PA448500 | atorvastatin | Chemical | LabelAnnotation | associated | |||
| PA450272 | lovastatin | Chemical | ClinicalAnnotation | associated | PD | 16103896 | |
| PA451089 | pravastatin | Chemical | ClinicalAnnotation, LabelAnnotation, VariantAnnotation | associated | PD | ||
| PA451241 | ribavirin | Chemical | ClinicalAnnotation | associated | PD | 21572301 | |
| PA50 | APOB | Gene | DataAnnotation | associated |
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 38182887 | 2024 | LDLR is an entry receptor for Crimean-Congo hemorrhagic fever virus. | 8 |
| 38236436 | 2024 | Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia. | 0 |
| 38255763 | 2024 | iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia. | 0 |
| 38433605 | 2024 | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR. | 1 |
| 38513336 | 2024 | High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico. | 0 |
| 38514665 | 2024 | Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor. | 0 |
| 38616260 | 2024 | Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia. | 0 |
| 38867270 | 2024 | LDLR c.89_92dup: a novel frameshift variation in familial hypercholesterolemia. | 0 |
| 38182887 | 2024 | LDLR is an entry receptor for Crimean-Congo hemorrhagic fever virus. | 8 |
| 38236436 | 2024 | Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia. | 0 |
| 38255763 | 2024 | iPSC-Derived Endothelial Cells Reveal LDLR Dysfunction and Dysregulated Gene Expression Profiles in Familial Hypercholesterolemia. | 0 |
| 38433605 | 2024 | A case report of an Egyptian family with familial hypercholesterolemia and an exonic LINE-1 insertion in LDLR. | 1 |
| 38513336 | 2024 | High Prevalence of Familial Hypercholesterolemia Due to the Founder Effect of the LDLR c.2271del Variant in Communities of Oaxaca, Mexico. | 0 |
| 38514665 | 2024 | Identification of a novel LDLR p.Glu179Met variant in Thai families with familial hypercholesterolemia and response to treatment with PCSK9 inhibitor. | 0 |
| 38616260 | 2024 | Impact of LDLR polymorphisms on lipid levels and atorvastatin's efficacy in a northern Chinese adult Han cohort with dyslipidemia. | 0 |
Citation
Dessen P
LDLR (low density lipoprotein receptor)
Atlas Genet Cytogenet Oncol Haematol. 2008-07-01
Online version: http://atlasgeneticsoncology.org/gene/50170/ldlr
