TRIM72

Chr 16

tripartite motif containing 72

Also known as: MG53

NCBI Gene: 493829 ENSG00000177238 UniProt: Q6ZMU5

The protein functions as a muscle-specific E3 ubiquitin ligase that plays a central role in cell membrane repair by nucleating assembly of repair machinery at injury sites and regulating membrane budding and exocytosis. Mutations in this gene cause limb-girdle muscular dystrophy, which is inherited in an autosomal recessive pattern. The gene shows very low constraint to loss-of-function variants (pLI near 0), suggesting haploinsufficiency is well-tolerated.

ResearchSummary from RefSeq, UniProt

Enables identical protein binding activity. Predicted to be involved in several processes, including plasma membrane repair; proteasome-mediated ubiquitin-dependent protein catabolic process; and protein homooligomerization. Predicted to act upstream of or within negative regulation of insulin receptor signaling pathway; negative regulation of insulin-like growth factor receptor signaling pathway; and negative regulation of myotube differentiation. Predicted to be located in cytoplasmic vesicle membrane. Predicted to be active in cytoplasm and sarcolemma. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.05

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)