SMN2

SMN2 or Survival Motor Neuron 2 is a gene that is critical for the maintenance of motor neurons. It is located on chromosome 5q13.2 and is known to produce a protein that is crucial for motor neuron survival.

Function

The protein produced by the SMN2 gene is involved in the assembly of ribonucleoproteins. These complexes are essential for the processing of pre-messenger RNA (pre-mRNA) into mature mRNA, which is then translated into protein. The SMN2 protein is particularly important in motor neurons, which control muscle movement.

Clinical significance

Mutations in the SMN2 gene are associated with Spinal Muscular Atrophy (SMA), a genetic disorder characterized by muscle weakness and atrophy due to the loss of motor neurons in the spinal cord and brainstem. SMA is typically caused by mutations in the related SMN1 gene, but the number of copies of the SMN2 gene can influence the severity of the disease.

Research and therapy

Research into SMN2 has focused on ways to increase the amount of functional SMN protein produced by the gene, as a potential therapy for SMA. This includes drugs that can modify the splicing of SMN2 pre-mRNA to increase the production of full-length SMN protein, and gene therapies that introduce additional copies of the SMN2 gene into cells.

See also

• Spinal Muscular Atrophy
• Gene therapy
• Motor neuron