VLDL Receptor ist ein Gen, das durch das Symbol VLDLR kodiert wird. Es ist auch bekannt als: Very low-density lipoprotein receptor; VLDLR. VLDL Receptor hat eine Masse von 96.1kDa, eine Aminosäurelänge von 873, und ist an Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 beteiligt.
Wir bieten 7 antikörper gegen VLDL Receptor, aufgewachsen in Kaninchen und Maus, welche geeignet sind für IHC and ELISA mit Proben abgeleitet von Human und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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 (By similarity).
Entrez Zusammenfassung
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.
Gewebespezifität
Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.
Rolle bei Krankheiten
Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1: A congenital, non-progressive cerebellar ataxia associated with disturbed equilibrium, delayed ambulation, mental retardation, cerebellar hypoplasia and mild cerebral gyral simplification. Additional features include short stature, strabismus, pes planus and, rarely, seizures.
Posttranslationale Modifikation
Ubiquitinated at Lys-839 by MYLIP leading to degradation.
Zellort
Membrane. Membrane > Clathrin-coated pit.
