Details for Gene LRP1B

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

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