VLDLR

Chr 9

very low density lipoprotein receptor

Also known as: CAMRQ1, CARMQ1, CHRMQ1, VLDL-R, VLDLRCH

NCBI Gene: 7436 ENSG00000147852 UniProt: P98155

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.

GeneReviews ResearchSummary from RefSeq, OMIM, UniProt

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]

GeneReviews ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtCerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1

Clinical highlights

Gene-disease validity (ClinGen)

cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 · ARDefinitivesufficient evidence for diagnostic panels

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

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P/LP missense

0.72

LOEUF

LOF

Mechanism· G2P

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GeneReview available — VLDLR