NP_003374.3
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
96,098 Da
NCBI Official Full Name
very low-density lipoprotein receptor isoform a
NCBI Official Synonym Full Names
very low density lipoprotein receptor
NCBI Protein Information
very low-density lipoprotein receptor; VLDL-R; VLDL receptor
UniProt Protein Name
Very low-density lipoprotein receptor
UniProt Synonym Gene Names
UniProt Entry Name
VLDLR_HUMAN
NCBI Summary for VLDLR
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]
UniProt Comments for VLDLR
VLDLR: 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.
Protein type: Membrane protein, integral; Receptor, misc.
Chromosomal Location of Human Ortholog: 9p24
Cellular Component: membrane; integral to membrane; plasma membrane; coated pit; receptor complex
Molecular Function: very-low-density lipoprotein receptor activity; 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: cholesterol metabolic process; nervous system development; receptor-mediated endocytosis; positive regulation of protein kinase activity; ventral spinal cord development; negative regulation of transcription from RNA polymerase II promoter; signal transduction; lipid transport; memory
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1
Research Articles on VLDLR
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Products associated with VLDLR elisa kit
Pathways associated with VLDLR elisa kit
Diseases associated with VLDLR elisa kit
Organs/Tissues associated with VLDLR elisa kit
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