DISEASES

Disease-gene associations mined from literature

Literature associating DYSF and autosomal recessive limb-girdle muscular dystrophy type 2I

DYSF [ENSP00000386881]

Dystrophy-associated fer-1-like protein; 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); Ferlin family

Synonyms:  DYSF,  B7Z2R1,  O75923,  Q7Z6P1,  B7Z2R1p ...

Linkouts:  STRING  Pharos  UniProt  OMIM