Details for Gene ADAMTS8

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

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