| Description |
Nuclear gems are enigmatic structures of unknown function. Until recently, the only components localized in gems were members of the SMN complex—the SMN protein and Gemins. In the cytoplasm, the SMN complex is essential for snRNP biogenesis but its role in the nucleus is unclear [29]. Loss of SMN protein results in degeneration of motor neurons and spinal muscular atrophy (SMA). An accompanying feature of SMA is loss of gems, which are also disrupted in the motor neuron disease—amyotrophic lateral sclerosis (ALS). |