VLDL Receptor est un gène codé par le symbole VLDLR. Il est également connu sous le nom de: Very low-density lipoprotein receptor; VLDLR. VLDL Receptor a une masse de 96.1kDa, une longueur d'acide aminé de 873, et est impliqué dans Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.
Nous proposons 7 des anticorps contre VLDL Receptor, élevé dans Lapin et Souris, qui sont appropriés pour le IHC et ELISA avec des échantillons dérivés de Humain et Rat.
Informations sur les Gènes et les Protéines
Résumé UniProt
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).
Résumé Entrez
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.
Spécificité tissulaire
Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.
Implication dans la maladie
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.
Modification post-traductionnelle
Ubiquitinated at Lys-839 by MYLIP leading to degradation.
Localisation cellulaire
Membrane. Membrane > Clathrin-coated pit.
