VLDLR very low density lipoprotein receptor
Gene ID: 7436, updated on 11-Apr-2024Gene type: protein coding
Also known as: CAMRQ1; CARMQ1; CHRMQ1; VLDL-R; VLDLRCH
- See all available tests in GTR for this gene
- Go to complete Gene record for VLDLR
- Go to Variation Viewer for VLDLR variants
Summary
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. This gene encodes a lipoprotein receptor that is a member of the LDLR family and plays important roles in VLDL-triglyceride metabolism and the reelin signaling pathway. Mutations in this gene cause VLDLR-associated cerebellar hypoplasia. Alternative splicing generates multiple transcript variants encoding distinct isoforms for this gene. [provided by RefSeq, Aug 2009]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 | See labs |
| Discovery and refinement of loci associated with lipid levels. GeneReviews: Not available | |
| Genome-wide association analysis of age-at-onset in Alzheimer's disease. GeneReviews: Not available | |
| Genome-wide association study of a quantitative disordered gambling trait. GeneReviews: Not available | |
| Identification of cis- and trans-acting genetic variants explaining up to half the variation in circulating vascular endothelial growth factor levels. GeneReviews: Not available |
Genomic context
- Location:
- 9p24.2
- Sequence:
- Chromosome: 9; NC_000009.12 (2621787..2660056)
- Total number of exons:
- 19
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for VLDLR variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- 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
- Variation ViewerRelated Variants
- VLDLR database
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