Primary Identifier | MGI:3612190 | Organism | mouse, laboratory |
Chromosome | 7 | NCBI Gene Number | 434246 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables phosphatidylserine binding activity; ubiquitin conjugating enzyme binding activity; and ubiquitin protein ligase activity. Involved in several processes, including muscle organ development; plasma membrane repair; and protein homooligomerization. Acts upstream of or within negative regulation of myotube differentiation; negative regulation of signal transduction; and proteasome-mediated ubiquitin-dependent protein catabolic process. Located in cytoplasmic vesicle membrane and sarcolemma. Is expressed in heart and skeletal muscle. Orthologous to human TRIM72 (tripartite motif containing 72). PHENOTYPE: Mice with disruption of this gene display muscle pathologies that develop with age. Mice homozygous for a knock-out allele exhibit enhanced myogenesis. Homozygosity for the p.C14A mutation ameliorates the effects of a high-fat diet without affecting susceptibility to myocardial ischemic injury. [provided by MGI curators] |