Definition: 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.
Other names Survival of Motor Neuron 1, Telomeric Protein; Survival Motor Neuron Protein 1; SMN Protein (Spinal Muscular Atrophy)