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 | OLI1466; OLI1461; OLI1063 |
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 |