Details for Gene EML6

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; OLI1680; OLI1689
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

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