Spinal Muscular atrophy Molecular Biology

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SMN (survival motor neuron)gene produces SMN protein. This protein is ubiquitously found in all cells (located in both the cytoplasm and in the nucleus).

The main function that is found to be associated with them are as follows

• They are components of spliceosome, involved in pre-m-RNA splicing (Kolb 2007)
• Involved in actin cytoskeletal dynamics (Bowerman 2009 which is involved in motor axon pathfinding
• Appears to be involved in maintaining structural and physiological integrity of neuromuscular junction Rossoll 2009)