DISEASES

Disease-gene associations mined from literature

Literature associating DYSF and inclusion body myositis

DYSF [ENSP00000386881]

Dysferlin; Key calcium ion sensor involved in the Ca(2+)-triggered synaptic vesicle-plasma membrane fusion. Plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress (By similarity); Belongs to the ferlin family.

Synonyms:  DYSF,  O75923,  O75923p,  hO75923,  4CAH ...

Linkouts:  STRING  Pharos  UniProt  OMIM