Skip to main content

Medical Subject Headings (thesaurus)

Search from vocabulary

Concept information

Preferred term

Survival of Motor Neuron 1 Protein  

Type

  • mesh:Descriptor

Definition

  • 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.

Broader concept

Synonym(s)

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

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-NVLQ100C-7

Download this concept:

RDF/XML TURTLE JSON-LD Created 7/8/08, last modified 5/27/16