Survival of motor neuron protein

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Survival motor neuron protein
File:Protein SMN1 PDB 1g5v.png
Tudor domain from human SMN. PDB 1g5v[1]
Identifiers
Symbol SMN
Pfam PF06003
Pfam clan CL0049
InterPro IPR010304
SCOP 1mhn
SUPERFAMILY 1mhn

The survival of motor neuron protein (SMN) is a complex of multiproteins involved in the assembly of snRNPs, the essential components of spliceosomal machinery.[2]It is encoded by the gene SMN1. A lack of SMN due to SMN1 deletion results in widespread splicing defects, especially in spinal motor neurons, and is one cause of spinal muscular atrophy.

SMN also functions in transcriptional regulation, telomerase regeneration and cellular trafficking.[3]

SMN is found in the cytoplasm of all animal cells and also in the nuclear gems. The protein complex includes at least six other proteins (gem-associated protein 2 - 7) [2]

Research also showed a possible role of SMN in neuronal migration and/or differentiation.[4]

Evolutionary conservation

SMN is evolutionary conserved including the Fungi kingdom, though only fungal organisms with a great number of introns has the smn gene (or the spf30 paralogue). Surprisingly, these are filamentous fungus which have mycelia, so suggesting analogy to the neuronal axons.[5]

See also

References

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  4. http://cat.inist.fr/?aModele=afficheN&cpsidt=17713178
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External links

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