https://www.ncbi.nlm.nih.gov/pubmed/22442138
Kts. TRIM32 kromosomi8 q38.1. , LGMD2H, STM, BBSH (C_VII)
https://www.sciencedirect.com/science/article/pii/S095506741500006X
Desmin related disease: a matter of cell survival failure
Maintenance
of the highly organized striated muscle tissue requires a cell-wide
dynamic network that through interactions with all vital cell
structures, provides an effective mechanochemical integrator of
morphology and function, absolutely necessary for intra-cellular and
intercellular coordination of all muscle functions. A good candidate for
such a system is the desmin intermediate filament cytoskeletal network.
Human desmin mutations and post-translational modifications cause
disturbance of this network, thus leading to loss of function of both
desmin and
of normal function and gain of toxic function are linked to mitochondrial defects, cardiomyocyte eath, muscle degeneration and development of skeletal myopathy and cardiomyopathy.
https://www.ncbi.nlm.nih.gov/gene/1674
Desmiini koodautuu 2 kromosomista.
- CSM1; CSM2; CDCD3; CMD1F; LGMD1D; LGMD1E; LGMD2R
- Summary
- 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]
- Annotation information
- Note: We recognize that OMIM uses LGMD1D to refer to the
locus on chromosome 6. There are many citations, however, including
PubMed 8533766, 15316618, 20682716, and 21376592 which define LGMD1D as
the locus on chromosome 7. We are retaining the usage of the HUGO Gene
Nomenclature Committee (HGNC). [24 Jul 2017]
- Expression
- Biased expression in heart (RPKM 2605.8), esophagus (RPKM 953.7) and 6 other tissues See more
- Orthologs
- mouse
all
ORIGIN
1 msqaysssqr vssyrrtfgg apgfplgspl sspvfpragf gskgssssvt srvyqvsrts
61 ggagglgslr asrlgttrtp ssygagelld fsladavnqe flttrtnekv elqelndrfa
121 nyiekvrfle qqnaalaaev nrlkgreptr vaelyeeelr elrrqvevlt nqrarvdver
181 dnllddlqrl kaklqeeiql keeaennlaa fradvdaatl aridlerrie slneeiaflk
241 kvheeeirel qaqlqeqqvq vemdmskpdl taalrdiraq yetiaaknis eaeewykskv
301 sdltqaankn ndalrqakqe mmeyrhqiqs ytceidalkg tndslmrqmr eledrfasea
361 sgyqdniarl eeeirhlkde marhlreyqd llnvkmaldv eiatyrklle geesrinlpi
421 qtysalnfre tspeqrgsev htkktvmikt ietrdgevvs eatqqqhevl
//
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