DES desmin

Gene ID: 1674, updated on 19-Sep-2024
Gene type: protein coding
Also known as: CSM1; CSM2; CDCD3; LGMD1D; LGMD1E; LGMD2R

Summary

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Desmin-related myofibrillar myopathy MedGen: C1832370OMIM: 601419GeneReviews: Dilated Cardiomyopathy Overview	See labs
Dilated cardiomyopathy 1I MedGen: C1858154OMIM: 604765GeneReviews: Dilated Cardiomyopathy Overview	See labs
Neurogenic scapuloperoneal syndrome, Kaeser type MedGen: C1867005OMIM: 181400GeneReviews: Not available	See labs
Primary dilated cardiomyopathy MedGen: C0007193GeneReviews: Dilated Cardiomyopathy Overview	See labs

Genomic context

Location:: 2q35

Sequence:: Chromosome: 2; NC_000002.12 (219418377..219426734)

Total number of exons:: 9

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for DES variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ARVD/C Genetic Variants Database - DES
ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
DES homepage - Leiden Muscular Dystrophy pages
Human Intermediate Filament Database DES
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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