| Gene Symbol | DES |
|---|---|
| Entrez Gene | 1674 |
| Alt Symbol | CSM1, CSM2, LGMD2R |
| Species | Human |
| Gene Type | protein-coding |
| Description | desmin |
| Other Description | intermediate filament protein|mutant desmin p.K241E |
| Swissprots | P17661 Q549R8 Q8IZR1 Q9UJ80 Q8TCX2 Q8NES2 Q549R7 Q9UHN5 Q8TAC4 Q8IZR6 Q15787 Q549R9 Q8TD99 Q8NEU6 |
| Accessions | AAA99221 AAG43459 AAG43460 AAM47026 AAV64888 AAV64889 AAV64890 AAY15051 ABC33803 AGC00770 CAA37307 EAW70739 EAW70740 EAW70741 P17661 AF055081 AAC39938 AF055082 AAC39939 AF055083 AAC39940 AF137053 AAF15400 AF167579 AAG41217 AF486807 AAL93205 AF487828 AAL99078 AF521879 AAN15036 AF527578 AAN37810 AJ132926 CAB62389 AK022087 AK097038 AK098332 AK123787 AK300654 BAG62342 AL541778 AY083345 AAL99215 AY125465 AAM95238 BC010072 BC032116 AAH32116 BQ941246 DQ104335 AAZ17411 DQ104336 AAZ17412 DQ104337 AAZ17413 DQ892282 ABM83208 DQ895482 ABM86408 EF617312 ABR08708 JX114780 AGC00771 U59167 AAC50680 NM_001927 NP_001918 |
| Function | Desmin 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. |
| Subcellular Location | Cytoplasm. |
| Top Pathways | Hypertrophic cardiomyopathy (HCM), Arrhythmogenic right ventricular cardiomyopathy (ARVC), Dilated cardiomyopathy |