Aliases for VLDLR Gene
External Ids for VLDLR Gene
Previous GeneCards Identifiers for VLDLR Gene
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]
GeneCards Summary for VLDLR Gene
VLDLR (Very Low Density Lipoprotein Receptor) is a Protein Coding gene. Diseases associated with VLDLR include Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1 and Cerebellar Hypoplasia. Among its related pathways are Spinocerebellar ataxia and Lissencephaly gene (LIS1) in neuronal migration and development. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is LRP8.
UniProtKB/Swiss-Prot Summary for VLDLR Gene
Binds VLDL and transports it into cells by endocytosis. In order to be internalized, the receptor-ligand complexes must first cluster into clathrin-coated pits. Binding to Reelin induces tyrosine phosphorylation of Dab1 and modulation of Tau phosphorylation (By similarity).