Details for Gene CPAMD8

GENE NAME CPAMD8
CHROMOSOME 19
ENSEMBL ID None
ENTREZ ID ENSG00000160111
UNIPROT ACCESSION NUMBER Q8IZJ3
GO MOLECULAR FUNCTION ['serine-type endopeptidase inhibitor activity']
ESSENTIAL IN MOUSE None
PATHWAYS
1 combination linked to CPAMD8 OLI1683
1 variant linked to CPAMD8 CPAMD8:c.4916_4919insT, p.Ala1640GlyfsTer63
1 disease linked to CPAMD8 Non-Syndromic genetic keratoconus

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