Homo Sapiens
DES - Desmin
Alias:
CSM1
CSM2
CDCD3
LGMD1D
LGMD1E
LGMD2R
Basic Information
Sequence Homology
Disease & Mutation
Transcripts & Proteins
Gene Expression
Protein Interaction
Related Models
Drugs
References
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]
Basic Information
NCBI
Transcripts
Exons
Length
MW (kDa)
Mutations
Related Diseases
Related Models
Reference
7
9
8358 bp
53.54
4067
9
8
51
DES Genetics information (+)
GRCh38
Chr : -
Sequence Homology
Selected Gene:
Human:DES
Disease & Mutation
#
Disease
Anatomical category
Score
Count
No data available
Transcripts & Proteins
Table View
Tile View
#
Transcript
Length(nt)
Exon count
CDS(bp)
Protein
Length(aa)
No data available
* This data comes from NCBI.
Gene Expression
Tissue-specific RNA expression
Organ
Expression
Alphabetical
Cell-specific RNA expression
Organ
Expression
Alphabetical
Protein Interaction
Acting
Regulation
Detail
Mechanism
Target
Residues
Reference
Score
No data available
Related Models
Type
Name
MGI
Strain of Origin
Publications
No data available
Drugs
Name
CAS Number
Status
Phase
Link
No data available
References
Title
PMID
Journal
Year
IF
No Data Found!
Variant
Sequence
Comparison
Al agent
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