GENE NAME | LOXL2 |
CHROMOSOME | 8 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000134013 |
UNIPROT ACCESSION NUMBER | Q9Y4K0 |
GO MOLECULAR FUNCTION | ['scavenger receptor activity', 'oligosaccharide binding', 'calcium ion binding', 'electron transfer activity', 'protein binding', 'protein-lysine 6-oxidase activity', 'copper ion binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1474244; R-HSA-1474290; R-HSA-1566948; R-HSA-2022090; R-HSA-2243919 |
1 combination linked to LOXL2 | OLI1674 |
1 variant linked to LOXL2 | LOXL2:c.1642C>A, p.Pro548Thr |
1 disease linked to LOXL2 | Non-Syndromic genetic keratoconus |