Mouse VLDLR Protein 3797

Additional Information:
inaccessionP98156|express systemHEK293|product tagC-His|purity> 95% as determined by Tris-Bis PAGE|backgroundVLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures.VLDLR-CH is inherited in an autosomal recessive manner. Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible when the pathogenic variants in a family are known.|molecular weightThe protein has a predicted MW of 86.1 kDa. Due to glycosylation, the protein migrates to 110-130 kDa based on Tris-Bis PAGE result.|available size100 g, 500 g|endotoxinLess than 1EU per g by the LAL method.|Mouse VLDLR Protein 3797proteinSize and concentration100, 500g and lyophilizedFormLyophilizedStorage InstructionsValid for 12 months from date of receipt when stored at -80C. Recommend to aliquot the protein into smaller quantities for optimal storage. Please minimize freeze-thaw cycles.Storage bufferShipped at ambient temperature.Purity> 95% as determined by Tris-Bis PAGEtarget relevanceVLDLR cerebellar hypoplasia (VLDLR-CH) is characterized by non-progressive congenital ataxia that is predominantly truncal and results in delayed ambulation, moderate-to-profound intellectual disability, dysarthria, strabismus, and seizures.VLDLR-CH is inherited in an autosomal recessive manner. Carrier testing for at-risk relatives, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible when the pathogenic variants in a family are known.Protein namesVery low-density lipoprotein receptor (VLDL receptor) (VLDL-R)Gene namesVldlr,VldlrMass10090DaFunctionMultifunctional cell surface receptor that binds VLDL and transports it into cells by endocytosis and therefore plays an important role in energy metabolism (PubMed:11108739, PubMed:24293365). Binds also to a wide range of other molecules including Reelin/RELN or apolipoprotein E/APOE-containing ligands as well as clusterin/CLU. In the off-state of the pathway LRP8 and VLDLR form homo or heterooligomers (By similarity). Upon binding to ligands, homooligomers are rearranged to higher order receptor clusters that transmit the extracellular RELN signal to intracellular signaling processes by binding to DAB1 on its cytoplasmic tail (By similarity). This interaction results in phosphorylation of DAB1 leading to the ultimate cell responses required for the correct positioning of newly generated neurons (PubMed:23506116). Later, mediates a stop signal for migrating neurons, preventing them from entering the marginal zone (PubMed:17913789).Subellular locationMembrane; Single-pass type I membrane protein. Membrane, clathrin-coated pit; Single-pass type I membrane protein.TissuesAbundant in heart and muscle; less in kidney, brain, ovary, testis, lung and adipose tissue. Strongly expressed in neurons (PubMed:23506116).StructureHomooligomer (By similarity). Binds to the extracellular matrix protein Reelin/RELN (PubMed:10571241). Interacts with LRP8 (By similarity). Interacts with LDLRAP1 (PubMed:12746448). Interacts with SNX17 (PubMed:12169628). Interacts with DAB1. Interacts with PCSK9 (By similarity). Interacts with PAFAH1B3 and PAFAH1B2, the catalytic complex of (PAF-AH (I)) heterotetrameric enzyme; these interactions may modulate the Reelin pathway (By similarity). Interacts with STX5; this interaction mediates VLDLR translocation from the endoplasmic reticulum to the plasma membrane (By similarity). Interacts with CLU (By similarity).Post-translational modificationUbiquitinated at Lys-839 by MYLIP leading to degradation.Target Relevance information above includes information from UniProt accession: P98156The UniProt Consortium|