protein
Dystrophin
Gene
DMD
Organism
Homo sapiens(9606)
Length
3685 aa
Mass
426,778 Da
Dystrophin is a large cytoplasmic protein that anchors the extracellular matrix to the cytoskeleton through F-actin interactions and serves as a ligand for dystroglycan (UniProt: P11532). It is a key component of the dystrophin-associated glycoprotein complex, which localizes to the neuromuscular junction and synapses throughout the peripheral and central nervous systems, where it provides structural stabilization and participates in signaling and synaptic transmission.
Mutations in the DMD gene cause Duchenne muscular dystrophy (the most common muscular dystrophy), Becker muscular dystrophy, and X-linked dilated cardiomyopathy (UniProt: P11532). Duchenne muscular dystrophy typically manifests in boys aged 3–7 with progressive proximal weakness, wheelchair dependence by early adolescence, and intellectual impairment in approximately 50% of patients. Becker muscular dystrophy presents later with variable progression, while dystrophin deficiency can also lead to isolated cardiac dysfunction.
Dystrophin is classified as SFARI syndromic (SFARI Cat S), reflecting its association with autism spectrum disorder in the context of neuromuscular and neurodevelopmental complications observed in dystrophinopathies, particularly the cognitive and behavioral features noted in Duchenne muscular dystrophy.
Generated from the curated entity record below. May contain errors — verify against source links.
Genetic Evidence · ASD
Source: SFARI Gene database · gene.sfari.org
Related Publications
Browse all →Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Ruzzo Elizabeth K et al.Cell2019PMID 31398340Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo Hui et al.Molecular autism2018PMID 30564305Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
C Yuen Ryan K et al.Nature neuroscience2017PMID 28263302Identification of common genetic risk variants for autism spectrum disorder.
Grove Jakob et al.Nature genetics2019PMID 30804558Synaptic, transcriptional and chromatin genes disrupted in autism.
De Rubeis Silvia et al.Nature2014PMID 25363760
Function
Anchors the extracellular matrix to the cytoskeleton via F-actin. Ligand for dystroglycan. Component of the dystrophin-associated glycoprotein complex which accumulates at the neuromuscular junction (NMJ) and at a variety of synapses in the peripheral and central nervous systems and has a structural function in stabilizing the sarcolemma. Also implicated in signaling events and synaptic transmission
Disease associations
Duchenne muscular dystrophyDMD
Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment.
Becker muscular dystrophyBMD
A neuromuscular disorder characterized by dystrophin deficiency. It appears between the age of 5 and 15 years with a proximal motor deficiency of variable progression. Heart involvement can be the initial sign. Becker muscular dystrophy has a more benign course than Duchenne muscular dystrophy.
Cardiomyopathy, dilated, 3BCMD3B
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD3B is an X-linked disorder.
Sources
Last updated 5/6/2026, 5:24:52 AM