Target:VLDLR
Fields:Spinocerebellar ataxia;Lipid and atherosclerosis
Gene Name:VLDLR
Protein Name:Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)
Human Gene Id:7436
Human Swiss Prot No:P98155
Mouse Swiss Prot No:P98156
Rat Swiss Prot No:P98166
Immunogen:Synthesized peptide derived from part region of human protein
Specificity:VLDLR Polyclonal Antibody detects endogenous levels of protein.
Formulation:Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
Source:Polyclonal, Rabbit,IgG
Dilution:WB 1:500-2000 ELISA 1:5000-20000
Purification:The antibody was affinity-purified from rabbit antiserum by affinity-chromatography using epitope-specific immunogen.
Concentration:1 mg/ml
Storage Stability:-15°C to -25°C/1 year(Do not lower than -25°C)
Observed Band(KD):96kD
Background: 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],
Function:disease:Deletions involving VLDLR may be the cause of VLDLR-associated cerebellar hypoplasia (VLDLRCH) [MIM:224050]; also known as dysequilibrium syndrome (DES) or non-progressive cerebellar disorder with mental retardation. VLDLRCH is a syndrome characterized by moderate-to-profound mental retardation, delayed ambulation, and predominantly truncal ataxia. Additional features include strabismus and pesplanus in the majority of patients, seizures in 40% of patients, and short stature in 15% of patients. Magnetic resonance imaging demonstrates inferior cerebellar hypoplasia and mild cortical gyral simplification.,function: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.,similarity:Co
Subcellular Location:Cell membrane ; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein.
Expression:Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.