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. Defects in VLDLR are the cause of cerebellar ataxia mental retardation and dysequilibrium syndrome type 1 (CMARQ1); also known as dysequilibrium syndrome (DES) or non- progressive cerebellar disorder with mental retardation. CMARQ1 is a congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation and cerebellar hypoplasia. Additional features include short stature, strabismus, pes planus and, rarely, seizures. 2 isoforms of the human protein are produced by alternative splicing. Note: This description may include information from UniProtKB.
Protein type: Receptor, misc.; Membrane protein, integral
Cellular Component: membrane; plasma membrane; integral to membrane; coated pit; receptor complex
Molecular Function: low-density lipoprotein receptor activity; very-low-density lipoprotein receptor activity; very-low-density lipoprotein binding; protein binding; apolipoprotein binding; calcium ion binding; glycoprotein binding; calcium-dependent protein binding
Biological Process: receptor-mediated endocytosis; nervous system development; cholesterol metabolic process; positive regulation of protein kinase activity; ventral spinal cord development; negative regulation of transcription from RNA polymerase II promoter; lipid transport; signal transduction; memory
LTP: The number of records in which this modification site was determined using site-specific methods. SS methods include amino acid sequencing, site-directed mutagenesis, modification site-specific antibodies, specific MS strategies, etc.