Details for Gene VLDLR

GENE NAME VLDLR
CHROMOSOME 9
ENSEMBL ID None
ENTREZ ID ENSG00000147852
UNIPROT ACCESSION NUMBER P98155
GO MOLECULAR FUNCTION ['apolipoprotein binding', 'cargo receptor activity', 'reelin receptor activity', 'calcium ion binding', 'very-low-density lipoprotein particle receptor activity', 'very-low-density lipoprotein particle binding', 'calcium-dependent protein binding', 'protein binding', 'low-density lipoprotein particle receptor activity']
ESSENTIAL IN MOUSE Non-essential
PATHWAYS hsa05017; R-HSA-1266738; R-HSA-174824; R-HSA-382551; R-HSA-422475; R-HSA-8866376; R-HSA-8866427; R-HSA-8964043; R-HSA-8964046; R-HSA-9675108
3 combinations linked to VLDLR OLI1063; OLI1461; OLI1466
6 variants linked to VLDLR VLDLR:c.902G>A, p.Arg301Gln; VLDLR:c.1132T>C, p.Tyr378His; VLDLR:c.1901G>A, p.Arg634His; VLDLR:c.1967G>A, p.Arg656His; VLDLR:c.1313G>A, p.Gly438Asp; VLDLR:c.242A>G, p.Asn81Ser
2 diseases linked to VLDLR Rare pervasive developmental disorder; Primary ovarian failure

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