desmin (DES)
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Function
- class-3 intermediate filament proteins
- in adult striated muscle desmin forms a fibrous network connecting myofibrils to each other & to the plasma membrane from the periphery of the Z-line structures
Structure
- homopolymer
- belongs to the intermediate filament family
Compartment
Expression
- found in muscle cells
Pathology
- defects in desmin are the cause of
More general terms
References
- ↑ UniProt http://www.uniprot.org/uniprot/P17661.html
- ↑ Human intermediate Filament mutation Database http://www.interfil.org
- ↑ GeneReviews https://www.genecards.org/cgi-bin/carddisp.pl?gene=DES
- ↑ Wikipedia; Note: desmin entry http://en.wikipedia.org/wiki/desmin
- ↑ Entrez Gene http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1674
Database
- UniProt: http://www.uniprot.org/uniprot/P17661.html
- Entrez gene: http://www.ncbi.nlm.nih.gov/sites/entrez?db=gene&cmd=Retrieve&dopt=Graphics&list_uids=1674
- Kegg: http://www.genome.jp/dbget-bin/www_bget?hsa:1674
- OMIM: https://mirror.omim.org/entry/125660
- OMIM: https://mirror.omim.org/entry/181400
- OMIM: https://mirror.omim.org/entry/601419
- OMIM: https://mirror.omim.org/entry/604765