Family

Desmin (IPR027698)

Short name: DES

Family relationships

Description

Desmin (DES) is a class-III intermediate filament found in muscle cells [PMID: 8792816]. 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 [PMID: 1069986].

Defects in DES are the cause of several human diseases, such as myopathy myofibrillar type 1 (MFM1), cardiomyopathy dilated type 1I (CMD1I) and neurogenic scapuloperoneal syndrome Kaeser type (Kaeser syndrome) [PMID: 19879535, PMID: 10430757, PMID: 17439987]. MFM1 is a neuromuscular disorder characterised 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 [PMID: 19879535]. CMD1I is a disorder characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia [PMID: 10430757]. Kaeser syndrome is an autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy [PMID: 17439987].

GO terms

Biological Process

No terms assigned in this category.

Molecular Function

No terms assigned in this category.

Cellular Component

GO:0005882 intermediate filament

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER