Details for Gene DMD

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

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