TRIM72
Description
The TRIM72 (tripartite motif containing 72) is a protein-coding gene located on chromosome 16.
TRIM72, also known as Mitsugumin-53, is a muscle-specific protein crucial for cell membrane repair. It acts as a sensor for membrane damage, binding to phosphatidylserine and undergoing disulfide bond formation and homooligomerization in response to oxidative stress. This oligomerization serves as a nucleation site for recruiting TRIM72-containing vesicles to the injury site, leading to membrane patch formation. TRIM72 likely functions upstream of the calcium-dependent membrane resealing process and is essential for transporting DYSF to injury sites during repair. Additionally, it regulates membrane budding and exocytosis and may influence the movement of endocytic vesicles containing KCNB1.
TRIM72 is also known as MG53.
Associated Diseases
- breast cancer
- exercise intolerance, riboflavin-responsive
- tubular aggregate myopathy
- inclusion body myopathy with Paget disease of bone and frontotemporal dementia
- tibial muscular dystrophy
- autosomal dominant distal myopathy
- GNE myopathy
- myofibrillar myopathy 3
- polyglucosan body myopathy type 2
- spinal muscular atrophy, type IV
- autosomal recessive limb-girdle muscular dystrophy type 2G
