GENE NAME | EML6 |
CHROMOSOME | 2 |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000214595 |
UNIPROT ACCESSION NUMBER | Q6ZMW3 |
GO MOLECULAR FUNCTION | ['microtubule binding'] |
ESSENTIAL IN MOUSE | None |
PATHWAYS | |
3 combinations linked to EML6 | OLI1694; OLI1689; OLI1680 |
3 variants linked to EML6 | EML6:c.2347G>T, p.Asp783Tyr; EML6:c.3181G>A, p.Asp1061Asn; EML6:c.2752A>G, p.Thr918Ala |
1 disease linked to EML6 | Non-Syndromic genetic keratoconus |