Entity Details

Primary name VLDLR
Entity type gene
Source Source Link

Details

PrimaryID7436
RefseqGeneNG_012741
SymbolVLDLR
Namevery low density lipoprotein receptor
Chromosome9
Location9p24.2
TaxID9606
Statuslive
SourceGenomegenomic
SourceOriginnatural
CreationDate1994-04-20
ModificationDate2021-06-11

Ontological Relatives

UniProt IDsVLDLR_HUMAN

GO terms

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GOName
GO:0005041 low-density lipoprotein particle receptor activity
GO:0005509 calcium ion binding
GO:0005765 lysosomal membrane
GO:0005886 plasma membrane
GO:0005905 clathrin-coated pit
GO:0006869 lipid transport
GO:0006898 receptor-mediated endocytosis
GO:0007165 signal transduction
GO:0007399 nervous system development
GO:0007411 axon guidance
GO:0007613 memory
GO:0008203 cholesterol metabolic process
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0021517 ventral spinal cord development
GO:0030229 very-low-density lipoprotein particle receptor activity
GO:0032802 low-density lipoprotein particle receptor catabolic process
GO:0034185 apolipoprotein binding
GO:0034189 very-low-density lipoprotein particle binding
GO:0034361 very-low-density lipoprotein particle
GO:0034436 glycoprotein transport
GO:0034447 very-low-density lipoprotein particle clearance
GO:0038024 cargo receptor activity
GO:0038025 reelin receptor activity
GO:0038026 reelin-mediated signaling pathway
GO:0043235 receptor complex
GO:0045860 positive regulation of protein kinase activity
GO:0048306 calcium-dependent protein binding
GO:0048813 dendrite morphogenesis
GO:1900006 positive regulation of dendrite development

Diseases

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Disease IDSourceNameDescription
224050 OMIMCerebellar ataxia, mental retardation, and dysequilibrium syndrome 1 (CAMRQ1)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. The disease is caused by variants affecting the gene represented in this entry.