DISEASES

Disease-gene associations mined from literature

Literature on TRIM72

TRIM72 [ENSP00000312675]

Tripartite motif-containing protein 72; Muscle-specific protein that plays a central role in cell membrane repair by nucleating the assembly of the repair machinery at injury sites. Specifically binds phosphatidylserine. Acts as a sensor of oxidation: upon membrane damage, entry of extracellular oxidative environment results in disulfide bond formation and homooligomerization at the injury site. This oligomerization acts as a nucleation site for recruitment of TRIM72-containing vesicles to the injury site, leading to membrane patch formation. Probably acts upstream of the Ca(2+)- dependent membrane resealing process. Required for transport of DYSF to sites of cell injury during repair patch formation. Regulates membrane budding and exocytosis. May be involved in the regulation of the mobility of KCNB1-containing endocytic vesicles (By similarity).

Synonyms:  TRIM72,  TRIM72p,  hTRIM72,  Q6ZMU5,  Q6ZMU5p ...

Linkouts:  STRING  Pharos  UniProt  OMIM