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.