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MGP000820

UniProt Annotations

Entry Information
Gene Namedesmin
Protein EntryDESM_HUMAN
UniProt IDP17661
SpeciesHuman
Comments
Comment typeDescription
DiseaseCardiomyopathy, dilated 1I (CMD1I) [MIM:604765]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:10430757}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseLimb-girdle muscular dystrophy 2R (LGMD2R) [MIM:615325]: A form of limb-girdle muscular dystrophy, a disease characterized by proximal weakness, weakness of the hip and shoulder girdles and prominent asymmetrical quadriceps femoris and biceps brachii atrophy. {ECO:0000269|PubMed:23687351}. Note=The disease is caused by mutations affecting the gene represented in this entry.
DiseaseMyopathy, myofibrillar, 1 (MFM1) [MIM:601419]: A neuromuscular disorder characterized by skeletal muscle weakness associated with cardiac conduction blocks, arrhythmias, restrictive heart failure, and by myofibrillar destruction with intracytoplasmic accumulation of desmin-reactive deposits in cardiac and skeletal muscle cells. {ECO:0000269|PubMed:10545598, ECO:0000269|PubMed:10717012, ECO:0000269|PubMed:10905661, ECO:0000269|PubMed:11061256, ECO:0000269|PubMed:11668632, ECO:0000269|PubMed:12620971, ECO:0000269|PubMed:12766977, ECO:0000269|PubMed:14648196, ECO:0000269|PubMed:14711882, ECO:0000269|PubMed:15800015, ECO:0000269|PubMed:16009553, ECO:0000269|PubMed:16865695, ECO:0000269|PubMed:17221859, ECO:0000269|PubMed:18061454, ECO:0000269|PubMed:19879535, ECO:0000269|PubMed:20829228, ECO:0000269|PubMed:22106715, ECO:0000269|PubMed:22395865, ECO:0000269|PubMed:9697706, ECO:0000269|PubMed:9736733}. Note=The disease is caused by mutations affecting the gene represented in this entry. Mutations in the DES gene are associated with a variable clinical phenotype which encompasses isolated myopathies, pure cardiac phenotypes (including dilated cardiomyopathy, restrictive cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy), cardiac conduction disease, and combinations of these disorders. If both cardiologic and neurologic features occur, they can manifest in any order, as cardiologic features can precede, occur simultaneously with, or follow manifestation of generalized neuromuscular disease (PubMed:19879535). {ECO:0000269|PubMed:19879535}.
DiseaseNeurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [MIM:181400]: Autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy. A large clinical variability is observed ranging from scapuloperoneal, limb grindle and distal phenotypes with variable cardiac or respiratory involvement. Facial weakness, dysphagia and gynaecomastia are frequent additional symptoms. Affected men seemingly bear a higher risk of sudden, cardiac death as compared to affected women. Histological and immunohistochemical examination of muscle biopsy specimens reveal a wide spectrum of findings ranging from near normal or unspecific pathology to typical, myofibrillar changes with accumulation of desmin. {ECO:0000269|PubMed:17439987}. Note=The disease is caused by mutations affecting the gene represented in this entry.
FunctionDesmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures.
InteractionSelf; NbExp=2; IntAct=EBI-1055572, EBI-1055572; O75923:DYSF; NbExp=3; IntAct=EBI-1055572, EBI-2799016; P40692:MLH1; NbExp=7; IntAct=EBI-1055572, EBI-744248; Q13496:MTM1; NbExp=13; IntAct=EBI-1055572, EBI-2864109;
PtmADP-ribosylation prevents ability to form intermediate filaments. {ECO:0000250}.
SimilarityBelongs to the intermediate filament family. {ECO:0000305}.
Subcellular LocationCytoplasm.
SubunitHomopolymer. Interacts with DST (By similarity). Interacts with MTM1. {ECO:0000250, ECO:0000269|PubMed:21135508}.
Web ResourceName=Human Intermediate Filament Mutation Database; URL="http://www.interfil.org";
Web ResourceName=Wikipedia; Note=Desmin entry; URL="http://en.wikipedia.org/wiki/Desmin";
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