GENE NAME | ADAMTS8 |
CHROMOSOME | 11 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000134917 |
UNIPROT ACCESSION NUMBER | Q9UP79 |
GO MOLECULAR FUNCTION | ['zinc ion binding', 'integrin binding', 'low-affinity phosphate transmembrane transporter activity', 'heparin binding', 'metallopeptidase activity', 'metalloendopeptidase activity'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | R-HSA-1474228; R-HSA-1474244; R-HSA-1643685; R-HSA-3781865; R-HSA-3906995; R-HSA-392499; R-HSA-5083635; R-HSA-5173105; R-HSA-5173214; R-HSA-5668914; R-HSA-597592 |
1 combination linked to ADAMTS8 | OLI1693 |
1 variant linked to ADAMTS8 | ADAMTS8:c.707G>A, p.Gly236Glu |
1 disease linked to ADAMTS8 | Non-Syndromic genetic keratoconus |