Survival of motor neuron
|Survival motor neuron protein|
Tudor domain from human SMN. PDB 
SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. It functions in transcriptional regulation, telomerase regeneration and cellular trafficking. SMN deficiency, primarily due to mutations in SMN1, results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy. Research also showed a possible role of SMN in neuronal migration and/or differentiation.
SMN is evolutionary conserved including the Fungi kingdom, though only fungal organisms with a great number of introns has the Smn gene (or the splicing factor spf30 paralogue). Surprisingly, these are filamentous fungus which have mycelia, so suggesting analogy to the neuronal axons.
SMN complex refers to the entire multi-protein complex involved in the assembly of snRNPs, the essential components of spliceosomal machinery. The complex, apart from the "proper" survival of motor neuron protein, includes at least six other proteins (gem-associated proteins 2–7) 
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- Singh NN, Shishimorova M, Cao LC, Gangwani L, Singh RN (2009). "A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy". RNA Biology. 6 (3): 341–50. doi:10.4161/rna.6.3.8723. PMC . PMID 19430205.
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- Mier P, Pérez-Pulido AJ (January 2012). "Fungal Smn and Spf30 homologues are mainly present in filamentous fungi and genomes with many introns: implications for spinal muscular atrophy". Gene. 491 (2): 135–41. doi:10.1016/j.gene.2011.10.006. PMID 22020225.
- Gubitz AK, Feng W, Dreyfuss G (May 2004). "The SMN complex". Experimental Cell Research. 296 (1): 51–6. doi:10.1016/j.yexcr.2004.03.022. PMID 15120993.
- SMN protein (spinal muscular atrophy) at the US National Library of Medicine Medical Subject Headings (MeSH)
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