Description

The SMN1 gene encodes the survival motor neuron (SMN) protein, that is required for efficient assembly of small nuclear ribonucleoprotein (snRNP) complexes. In cells, the SMN protein plays an important role in processing messenger RNA (mRNA). The SMN protein is found throughout the body, with high levels in the spinal cord. This protein is particularly important for the maintenance of motor neurons, which control muscle movement. Homozygous loss of the SMN1 gene causes spinal muscular atrophy. Absence of SMN1 is partially compensated for by SMN2, a gene similar to SMN1 capable to produce several versions of the SMN protein, but only one version is functional, the other versions are truncated and less stable (Lefebvre et al., 1995; Kashima et al., 2007).

External Information

Click here for more information about the SMN1 whole gene NGS genetic test.