GENE NAME | EMD |
CHROMOSOME | X |
ENSEMBL ID | ENSG00000102119 |
ENTREZ ID | 2010 |
UNIPROT ACCESSION NUMBER | P50402 |
GO MOLECULAR FUNCTION | beta-tubulin binding; protein binding; actin binding |
ESSENTIAL IN MOUSE | Non-essential |
PATHWAYS | R-HSA-68882; R-HSA-2980766; R-HSA-2995383; R-HSA-68886; R-HSA-69278; R-HSA-68882; R-HSA-2995383; R-HSA-2980766; R-HSA-68886; R-HSA-69278; hsa05410; hsa05412; R-HSA-2555396; R-HSA-9609523; R-HSA-2995410; hsa05410; hsa05412; R-HSA-2555396; R-HSA-9609523; R-HSA-4419969; R-HSA-9609507; R-HSA-2995410; R-HSA-68875; hsa05414; hsa05414; R-HSA-1640170; R-HSA-4419969; R-HSA-9609507; R-HSA-68875; R-HSA-1640170 |
2 combinations linked to EMD | OLI189; OLI077 |
2 variants linked to EMD | EMD:c.110_112delAGA, p.Lys37del; EMD:c.315T>G, p.Tyr105Ter |
1 disease linked to EMD | Emery-Dreifuss muscular dystrophy |