GENE NAME | LRP1B |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000168702 |
UNIPROT ACCESSION NUMBER | Q9NZR2 |
GO MOLECULAR FUNCTION | ['calcium ion binding', 'protein binding', 'low-density lipoprotein particle receptor activity'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | |
3 combinations linked to LRP1B | OLI1691; OLI1328; OLI1690 |
4 variants linked to LRP1B | LRP1B:c.11227G>A, ; LRP1B:c.1907G>A, ; LRP1B:c.12983A>G, p.Tyr4328Cys; LRP1B:c.2568C>G, p.His856Gln |
2 diseases linked to LRP1B | Non-Syndromic genetic keratoconus; Primary immunodeficiency |