This gene encodes a member of the RING zinc finger protein family found in striated muscle and iris. The product of this gene is an E3 ubiquitin ligase that localizes to the Z-line and M-line lattices of myofibrils. This protein plays an important role in the atrophy of skeletal and cardiac muscle and is required for the degradation of myosin heavy chain proteins, myosin light chain, myosin binding protein, and for muscle-type creatine kinase. [provided by RefSeq, Feb 2012]
- Muscle contraction
- Signal transduction
- Negative regulation of cardiac muscle hypertrophy
- Skeletal muscle atrophy
- Response to electrical stimulus involved in regulation of muscle adaptation
- Hypertrophic cardiomyopathy
- Muscular atrophy
- Myopathy, myofibrillar, 9, with early respiratory failure
- Muscle tissue disease
- Hyaline body myopathy
Gene Location
