Gene Name |
DMD dystrophin [ Homo sapiens ] |
Official Symbol |
DMD |
Synonyms |
DMD; dystrophin; dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272; BMD; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272; muscular dystrophy; Duchenne and Becker types; CMD3B; |
Gene ID |
1756 |
mRNA Refseq |
NM_004021 |
Protein Refseq |
NP_004012 |
MIM |
300377 |
UniProt ID |
P11532 |
Chromosome Location |
Xp21.2 |
Pathway |
Arrhythmogenic right ventricular cardiomyopathy (ARVC), organism-specific biosystem; Arrhythmogenic right ventricular cardiomyopathy (ARVC), conserved biosystem; Dilated cardiomyopathy, organism-specific biosystem; Dilated cardiomyopathy, conserved biosystem; Hypertrophic cardiomyopathy (HCM), organism-specific biosystem; Hypertrophic cardiomyopathy (HCM), conserved biosystem; Muscle contraction, organism-specific biosystem; |
Function |
PDZ domain binding; actin binding; actin binding; beta-dystroglycan binding; dystroglycan binding; integrin binding; metal ion binding; nitric-oxide synthase binding; protein binding; structural constituent of cytoskeleton; structural constituent of muscle; structural constituent of muscle; zinc ion binding; |