GENE NAME | LOXL1 |
CHROMOSOME | 15 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000129038 |
UNIPROT ACCESSION NUMBER | Q08397 |
GO MOLECULAR FUNCTION | ['protein-lysine 6-oxidase activity', 'protein binding', 'copper ion binding'] |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-1474244; R-HSA-1474290; R-HSA-1566948; R-HSA-2022090; R-HSA-2243919 |
1 combination linked to LOXL1 | OLI1695 |
1 variant linked to LOXL1 | LOXL1:c.1672C>G, p.His558Asp |
1 disease linked to LOXL1 | Non-Syndromic genetic keratoconus |