Survival of motor neuron
Survival of motor neuron or survival motor neuron (SMN) is a protein that in humans is encoded by the SMN1 and SMN2 genes.
| Survival motor neuron protein | |||||||||
|---|---|---|---|---|---|---|---|---|---|
Tudor domain from human SMN. PDB 1g5v | |||||||||
| Identifiers | |||||||||
| Symbol | SMN | ||||||||
| Pfam | PF06003 | ||||||||
| Pfam clan | CL0049 | ||||||||
| InterPro | IPR010304 | ||||||||
| SCOP2 | 1mhn / SCOPe / SUPFAM | ||||||||
| |||||||||
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.
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