LDLRAP1 low density lipoprotein receptor adaptor protein 1
Gene ID: 26119, updated on 5-Mar-2024Gene type: protein coding
Also known as: ARH; ARH1; ARH2; FHCB1; FHCB2; FHCL4
- See all available tests in GTR for this gene
- Go to complete Gene record for LDLRAP1
- Go to Variation Viewer for LDLRAP1 variants
Summary
The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
Description | Tests |
---|---|
Biological, clinical and population relevance of 95 loci for blood lipids. GeneReviews: Not available | |
Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
Hypercholesterolemia, familial, 4 | See labs |
Genomic context
- Location:
- 1p36.11
- Sequence:
- Chromosome: 1; NC_000001.11 (25543606..25590400)
- Total number of exons:
- 15
Variation
Resource | Links for this gene |
---|---|
ClinVar | Variants reported to ClinVar |
dbVar | Studies and variants |
SNP | GeneView ReportGo to Variation Viewer for LDLRAP1 variants |
1000 Genomes | See 1000 Genomes Browser (GRCh37.p13) |
- BioSystemsBioSystems
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- SNP: GeneViewSNPs linked from GeneView
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