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Survival of Motor Neuron 1 Protein

A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
Also Known As:
SMN Protein (Spinal Muscular Atrophy); Survival Motor Neuron Protein 1; Survival of Motor Neuron 1, Telomeric Protein
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Bio-Agent Context: Research Results