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:Contains 3 EGF-like domains.,similarity:Contains 6 LDL-receptor class B repeats.,similarity:Contains 8 LDL-receptor class A domains.,subunit:Binds to the extracellular matrix protein Reelin. Interacts with VLDLR. Interacts with SNX17 (By similarity). Interacts with DAB1. Receptor for the minor-group human rhinoviruses (HRVs); binds protein VP1 through the second and third LDL-receptor class A domains.,tissue specificity:Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.,
相关产品: RS0001,RS0002,YM3028,YM3029
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.
科研货号: PLA007369
VLDLR Polyclonal Antibody
Catalog NoPLA007369
Product information
基因名称: VLDLR
蛋白名称: Very low-density lipoprotein receptor (VLDL receptor) (VLDL-R)
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:Contains 3 EGF-like domains.,similarity:Contains 6 LDL-receptor class B repeats.,similarity:Contains 8 LDL-receptor class A domains.,subunit:Binds to the extracellular matrix protein Reelin. Interacts with VLDLR. Interacts with SNX17 (By similarity). Interacts with DAB1. Receptor for the minor-group human rhinoviruses (HRVs); binds protein VP1 through the second and third LDL-receptor class A domains.,tissue specificity:Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.,
相关产品: RS0001,RS0002,YM3028,YM3029
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.