Details for Gene ADAMTS7

GENE NAME ADAMTS7
CHROMOSOME 15
ENSEMBL ID None
ENTREZ ID ENSG00000136378
UNIPROT ACCESSION NUMBER Q9UKP4
GO MOLECULAR FUNCTION ['metalloendopeptidase activity', 'metallopeptidase activity', 'metal ion binding', 'protein binding']
ESSENTIAL IN MOUSE None
PATHWAYS 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 ADAMTS7 OLI1694
1 variant linked to ADAMTS7 ADAMTS7:c.646C>T, p.Arg216Trp
1 disease linked to ADAMTS7 Non-Syndromic genetic keratoconus

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