Survival of Motor Neuron 1 Protein
An SMN complex protein that contains a TUDOR DOMAIN and 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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