GENE NAME | DMD |
CHROMOSOME | X |
ENSEMBL ID | None |
ENTREZ ID | ENSG00000198947 |
UNIPROT ACCESSION NUMBER | A0A075B6G3 |
GO MOLECULAR FUNCTION | ['zinc ion binding', 'structural constituent of cytoskeleton', 'vinculin binding', 'dystroglycan binding', 'structural constituent of muscle', 'actin filament binding', 'actin binding', 'nitric-oxide synthase binding', 'protein binding', 'myosin binding'] |
ESSENTIAL IN MOUSE | Essential |
PATHWAYS | hsa05410; hsa05412; hsa05414; hsa05416; R-HSA-1474244; R-HSA-3000171; R-HSA-390522; R-HSA-397014 |
1 combination linked to DMD | OLI1480 |
1 variant linked to DMD | Copy Number Variant deletion on chromosome X of the exon51 in the gene DMD |
2 diseases linked to DMD | Duchenne muscular dystrophy; Wilson disease |