DISEASES

Disease-gene associations mined from literature

Literature associating MYOF and encephalomalacia

MYOF [ENSP00000352208]

Myoferlin; Calcium/phospholipid-binding protein that plays a role in the plasmalemma repair mechanism of endothelial cells that permits rapid resealing of membranes disrupted by mechanical stress. Involved in endocytic recycling. Implicated in VEGF signal transduction by regulating the levels of the receptor KDR (By similarity).

Synonyms:  MYOF,  H0YD14,  Q9NZM1,  H0YD14p,  hH0YD14 ...

Linkouts:  STRING  Pharos  UniProt  OMIM