- Concept UI
- M0360401
- 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.
- Terms
-
Survival of Motor Neuron 1 Protein
Preferred Term
Term UI
T714248
Date02/11/2008
LexicalTag
NON
ThesaurusID
NLM (2009)
-
Survival Motor Neuron Protein 1
Term UI
T714249
Date02/11/2008
LexicalTag
NON
ThesaurusID
NLM (2009)
-
SMN Protein (Spinal Muscular Atrophy)
Term UI
T714250
Date02/11/2008
LexicalTag
ABX
ThesaurusID
NLM (2009)
-
Survival of Motor Neuron 1, Telomeric Protein
Term UI
T714256
Date02/11/2008
LexicalTag
NON
ThesaurusID
NLM (2009)