SMN

The SMN protein is a 294–amino acid polypeptide that is expressed in all metazoans and in all cell types of vertebrates and forms part of a large protein complex, the SMN complex. This complex is composed of the SMN protein and 7 additional proteins, Gemin 2-8, and is essential for the biogenesis of spliceosomal small nuclear ribonucleoproteins and likely functions in the assembly, metabolism, and transport of a diverse number of other ribonucleoproteins, neuronal pathfinding, formation and function of neuromuscular junctions, myoblast fusion and maintenance of muscle architecture. Mechanistically, The SMN complex directly recognizes and binds to both the protein and the RNA components of the ribonucleoproteins and facilitates their interaction, thereby ensuring a strict specificity of the small nuclear ribonucleoprotein assembly process. Mutations in the human survival motor neuron 1 (SMN) gene are the primary cause of spinal muscular atrophy (SMA), a devastating neuromuscular disorder, recognized as the most prevalent genetic cause of early childhood mortality[1],[2].


[1] S.J. Kolb et al. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4.
[2] K. Praveen et al. SMA-causing missense mutations in survival motor neuron (Smn) display a wide range of phenotypes when modeled in Drosophila. PLoS Genet. 2014 Aug 21;10(8):e1004489. 

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2438 Cuspin-1 Upregulator of the Survival of Motor Neuron protein (SMN) by Ras signaling activation €95.00

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