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 |