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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