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Concept information

Preferred term

Survival of Motor Neuron 1 Protein  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • SMN Protein (Spinal Muscular Atrophy)
  • Survival Motor Neuron Protein 1
  • Survival of Motor Neuron 1, Telomeric Protein

Scope note

  • 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.

History note

  • 2009(2005); use SMN COMPLEX PROTEINS 2005-2008

In other languages

URI

http://www.yso.fi/onto/mesh/D055533

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