VLDLR
Chr 9ARvery low density lipoprotein receptor
Also known as: CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH
The protein functions as a multifunctional cell surface receptor that binds and transports VLDL into cells through endocytosis and serves as a critical component of the Reelin signaling pathway, which controls neuronal migration and positioning during brain development. Mutations cause cerebellar hypoplasia with impaired intellectual development and dysequilibrium syndrome, primarily affecting the cerebellum and cognitive function from early childhood. This condition follows autosomal recessive inheritance.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
VLDLR · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools