Spinal muscular atrophy molecular biology

Editors-in-Chief: C. Michael Gibson, M.S., M.D.; Priyamvada Singh, MBBS

Overview
Spinal muscular atrophy is caused by the mutation in SMN1 (survival motor neuron 1)gene. SMN 1 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-


 * Components of spliceosome, involved in pre-m-RNA splicing (transcription)
 * Involved in actin cytoskeletal dynamics (motor axon pathfinding)
 * Involved in maintaining structural and physiological integrity of neuromuscular junction