免疫原
Synthesized peptide derived from part region of human protein
特异性
VLDLR Monoclonal Antibody detects endogenous levels of protein.
组成（Formulation）
Liquid in PBS containing 50% glycerol, and 0.02% sodium azide.
纯化工艺（Immunogen）
The antibody was affinity-purified from mouse antiserum by affinity-chromatography using epitope-specific immunogen.
背景（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],
功能
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
蛋白名称
Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)
Fields
>>Spinocerebellar ataxia;>>Lipid and atherosclerosis
细胞定位
Cell membrane ; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein.
组织表达
Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.
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