SMN1 gene

The SMN1 gene provides instructions for making a protein called survival motor neuron (SMN), which is essential for maintaining healthy nerve cells that control muscle movements. When the SMN1 gene is mutated or missing, the production of this protein decreases, leading to nerve cell damage and muscle weakness. This condition is known as spinal muscular atrophy (SMA). The severity of SMA depends on how much functional SMN protein the person produces. Essentially, SMN1 is vital for the health of nerve cells that help us move and function properly.