Mouse anti-Human VLDL receptor, clone 1H10 Monoclonal Antibody | anti-VLDLR antibody
Anti Human VLDL receptor, clone 1H10
References:
Functional domains of the very low density lipoprotein receptor: molecular analysis of ligand binding and acid-dependent ligand dissociation mechanisms. Mikhailenko I et al. Journal of Cell Science 112, 3269-3281 (1999).
The apoE isoform binding properties of the VLDL receptor reveal marked differences from LRP and the LDL receptor. Ruiz J et al. Journal of Lipid Research 46, 1721-1731 (2005).
NCBI and Uniprot Product Information
NCBI Description
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 Description
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; 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: 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; lipid transport; signal transduction; memory
Disease: Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 1