Identity
HGNC
LOCATION
1p36.11
LOCUSID
ALIAS
ARH,ARH1,ARH2,FHCB1,FHCB2,FHCL4
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: 26119
MIM: 605747
HGNC: 18640
Ensembl: ENSG00000157978
Variants:
dbSNP: 26119
ClinVar: 26119
TCGA: ENSG00000157978
COSMIC: LDLRAP1
RNA/Proteins
| Gene ID | Transcript ID | Uniprot |
|---|---|---|
| ENSG00000157978 | ENST00000374338 | Q5SW96 |
Expression (GTEx)
Pathways
Protein levels (Protein atlas)
References
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 34425670 | 2021 | A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia. | 1 |
| 34425670 | 2021 | A Novel Splice Site Variant in the LDLRAP1 Gene Causes Familial Hypercholesterolemia. | 1 |
| 32073192 | 2020 | Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia. | 4 |
| 32073192 | 2020 | Molecular insights into the coding region mutations of low-density lipoprotein receptor adaptor protein 1 (LDLRAP1) linked to familial hypercholesterolemia. | 4 |
| 30876877 | 2019 | A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene. | 2 |
| 30971288 | 2019 | Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction. | 4 |
| 30876877 | 2019 | A case of autosomal recessive hypercholesterolemia caused by a new variant in the LDL receptor adaptor protein 1 gene. | 2 |
| 30971288 | 2019 | Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction. | 4 |
| 30270081 | 2018 | Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia. | 6 |
| 30270081 | 2018 | Novel combined variants of LDLR and LDLRAP1 genes causing severe familial hypercholesterolemia. | 6 |
| 28958330 | 2017 | Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. | 51 |
| 28963484 | 2017 | Understanding the differences of the ligand binding/unbinding pathways between phosphorylated and non-phosphorylated ARH1 using molecular dynamics simulations. | 9 |
| 28958330 | 2017 | Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome. | 51 |
| 28963484 | 2017 | Understanding the differences of the ligand binding/unbinding pathways between phosphorylated and non-phosphorylated ARH1 using molecular dynamics simulations. | 9 |
| 25225128 | 2015 | The history of Autosomal Recessive Hypercholesterolemia (ARH). From clinical observations to gene identification. | 17 |
Citation
Dessen P
LDLRAP1 (low density lipoprotein receptor adaptor protein 1)
Atlas Genet Cytogenet Oncol Haematol. 2016-10-01
Online version: http://atlasgeneticsoncology.org/gene/56131/ldlrap1-(low-density-lipoprotein-receptor-adaptor-protein-1)
