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.
Year introduced: 2009(2005)
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Subheadings:
Tree Number(s): D12.776.157.725.875.500, D12.776.580.922.500, D12.776.664.962.875.500
MeSH Unique ID: D055533
Entry Terms:
- Survival Motor Neuron Protein 1
- SMN Protein (Spinal Muscular Atrophy)
- Survival of Motor Neuron 1, Telomeric Protein
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