SMN1 (2F1) Mouse mAb #12976

The survival motor neuron (SMN) protein is ubiquitously expressed in mammals and encoded by two genes, SMN1 and SNM2 (1,2). The protein coding sequences of SMN1 and SMN2 are predicted to be identical, as SMN2 differs from SMN1 by only five nucleotides (3). SMN impacts various aspects of RNA metabolism, and is required for biogenesis of small nuclear ribonucleoprotein (snRNP) particles critical for pre-mRNA splicing. Furthermore, SMN, needed for stress granule formation, is found in ribonucleoprotein (RNP) granules moving through neuronal processes and is part of RNP complexes implicated in synaptic local translation (4,5). Mutations in its coding genes, SMN1 or SMN2, are linked to neuromuscular disease spinal muscular atrophy (SMA), a leading genetic cause of infant mortality (2-6). The severity of SMA is inversely proportional to SMN2 copy number. Over 96% of SMA patients have homozygous mutations (deletion, rearrangement, or point mutation) in SMN1, however they retain at least one copy of SMN2 (1).