Aliases for TRIM72 Gene
External Ids for TRIM72 Gene
Previous GeneCards Identifiers for TRIM72 Gene
GeneCards Summary for TRIM72 Gene
TRIM72 (Tripartite Motif Containing 72) is a Protein Coding gene. Diseases associated with TRIM72 include Miyoshi Muscular Dystrophy and Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2B. Among its related pathways are Cardiac conduction and Smooth Muscle Contraction. Gene Ontology (GO) annotations related to this gene include phosphatidylserine binding. An important paralog of this gene is TRIM39.
UniProtKB/Swiss-Prot Summary for TRIM72 Gene
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).