Details for Gene LOXL1

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

Found any issues with the data on this page? Report this entry.