VLDL Receptor è un gene codificato dal simbolo VLDLR. È noto anche come: Very low-density lipoprotein receptor; VLDLR. VLDL Receptor ha una massa di 96.1kDa, una lunghezza di amminoacidi di 873, ed è implicato in Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1.
Offriamo 7 anticorpi contro VLDL Receptor, allevati nel Coniglio e Topo, che sono adatti per IHC e ELISA con campioni derivati da Umano e Ratto.
Informazioni su geni e proteine
Riepilogo 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).
Sommario di 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.
Specificità del tessuto
Abundant in heart and skeletal muscle; also ovary and kidney; not in liver.
Coinvolgimento nella malattia
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.
Modifica post-translazionale
Ubiquitinated at Lys-839 by MYLIP leading to degradation.
Posizione cellulare
Membrane. Membrane > Clathrin-coated pit.
