Details for Gene EMD

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

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