DMD dystrophin
Gene ID: 1756, updated on 18-Apr-2024Gene type: protein coding
Also known as: BMD; CMD3B; MRX85; DXS142; DXS164; DXS206; DXS230; DXS239; DXS268; DXS269; DXS270; DXS272
- See all available tests in GTR for this gene
- Go to complete Gene record for DMD
- Go to Variation Viewer for DMD variants
Summary
This gene spans a genomic range of greater than 2 Mb and encodes a large protein containing an N-terminal actin-binding domain and multiple spectrin repeats. The encoded protein forms a component of the dystrophin-glycoprotein complex (DGC), which bridges the inner cytoskeleton and the extracellular matrix. Deletions, duplications, and point mutations at this gene locus may cause Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), or cardiomyopathy. Alternative promoter usage and alternative splicing result in numerous distinct transcript variants and protein isoforms for this gene. [provided by RefSeq, Dec 2016]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide meta-analysis identifies novel loci associated with schizophrenia and bipolar disorder. GeneReviews: Not available | |
| Becker muscular dystrophy | See labs |
| Dilated cardiomyopathy 3B | See labs |
| Duchenne muscular dystrophy MedGen: C0013264OMIM: 310200GeneReviews: Dystrophinopathies, NR0B1-Related Adrenal Hypoplasia Congenita | See labs |
| Genome-wide association study of co-occurring anxiety in major depression. GeneReviews: Not available | |
| Pharmacogenomic study of side-effects for antidepressant treatment options in STAR*D. GeneReviews: Not available | |
| Qualitative or quantitative defects of dystrophin MedGen: C5679787GeneReviews: Dystrophinopathies | See labs |
Copy number response
| Description |
|---|
| Copy number response Triplosensitivity No evidence available (Last evaluated 2019-11-20) ClinGen Genome Curation PageHaploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2019-11-20) ClinGen Genome Curation Page |
Genomic context
- Location:
- Xp21.2-p21.1
- Sequence:
- Chromosome: X; NC_000023.11 (31119222..33339388, complement)
- Total number of exons:
- 89
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for DMD variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- DMD homepage - Leiden Muscular Dystrophy pages
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.