KEGG   ORTHOLOGY: K07610Help
Entry
K07610                      KO                                     

Name
DES
Definition
desmin
Pathway
Hypertrophic cardiomyopathy (HCM)
Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Dilated cardiomyopathy
Disease
H00294  
Dilated cardiomyopathy (DCM)
H00594  
Distal muscular dystrophies
H00595  
Myofibrillar myopathies (MFM)
H00656  
Scapuloperoneal myopathy (SPM)
H01219  
Restrictive cardiomyopathy (RCM)
Brite
KEGG Orthology (KO) [BR:ko00001]
 Human Diseases
  Cardiovascular diseases
   05410 Hypertrophic cardiomyopathy (HCM)
    K07610  DES; desmin
   05412 Arrhythmogenic right ventricular cardiomyopathy (ARVC)
    K07610  DES; desmin
   05414 Dilated cardiomyopathy (DCM)
    K07610  DES; desmin
Cytoskeleton proteins [BR:ko04812]
 Eukaryotic cytoskeleton proteins
  Intermediate filaments
   Intermediate filaments
    Type III
     K07610  DES; desmin
BRITE hierarchy
Genes
HSA: 
1674(DES)
PTR: 
470657(DES)
PPS: 
GGO: 
PON: 
NLE: 
MCC: 
703300(DES)
MCF: 
CJC: 
MMU: 
13346(Des)
RNO: 
64362(Des)
CGE: 
NGI: 
HGL: 
OCU: 
TUP: 
CFA: 
497091(DES)
AML: 
UMR: 
FCA: 
PTG: 
BTA: 
280765(DES)
BOM: 
PHD: 
CHX: 
OAS: 
SSC: 
396725(DES)
CFR: 
BACU: 
LVE: 
ECB: 
MYB: 
MYD: 
PALE: 
MDO: 
SHR: 
OAA: 
GGA: 
395906(DES)
MGP: 
APLA: 
TGU: 
FAB: 
PHI: 
FPG: 
CLV: 
ASN: 
AMJ: 
ACS: 
PBI: 
XLA: 
379869(des.1-a) 446868(des.1-b)
XTR: 
394739(des.1)
DRE: 
30148(desma) 768287(desmb)
TRU: 
MZE: 
OLA: 
XMA: 
LCM: 
CMK: 
BFO: 
 » show all
TaxonomyKoalaUniProt
Reference
  Authors
Cetin N, Balci-Hayta B, Gundesli H, Korkusuz P, Purali N, Talim B, Tan E, Selcen D, Erdem-Ozdamar S, Dincer P
  Title
A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.
  Journal
J Med Genet 50:437-43 (2013)
  Sequence
[hsa:1674]

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