Details for Gene ADAMTS9

GENE NAME ADAMTS9
CHROMOSOME 3
ENSEMBL ID None
ENTREZ ID ENSG00000163638
UNIPROT ACCESSION NUMBER Q9P2N4
GO MOLECULAR FUNCTION ['zinc ion binding', 'metalloendopeptidase activity', 'metallopeptidase activity']
ESSENTIAL IN MOUSE Essential
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 ADAMTS9 OLI1693
1 variant linked to ADAMTS9 ADAMTS9:c.3967C>T, p.Arg1323Cys
1 disease linked to ADAMTS9 Non-Syndromic genetic keratoconus

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