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CAMRQ1
Chr 9ARvery low density lipoprotein receptor
Also known as: CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH
The very low density lipoprotein receptor (VLDLR) is a cell surface receptor that mediates endocytosis of VLDL triglycerides and functions in the reelin signaling pathway important for brain development. Biallelic mutations cause cerebellar hypoplasia with impaired intellectual development and dysequilibrium syndrome, characterized by cerebellar underdevelopment and balance problems. This condition follows autosomal recessive inheritance.
Some data sources returned errors (2)
ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CAMRQ1?content-type=application/json&expand=1
gnomad: Error: Gene not found
Population Genetics & Constraint
Constraint data not available from gnomAD.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CAMRQ1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Vestibular Implantation in Older Adults
RECRUITINGVestibular Implantation to Treat Adult-Onset Bilateral Vestibular Hypofunction
RECRUITINGLong Term Outcomes After Vestibular Implantation
RECRUITINGNo open access results found
External Resources
Links to major genomics databases and tools