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CAMRQ1

Chr 9

very low density lipoprotein receptor

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

NCBI Gene: 7436

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.

GeneReviews ResearchSummary from RefSeq, OMIM

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…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

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