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Symbol SMN1 contributors: shn/npt/pgu - updated : 15-10-2013
HGNC name survival of motor neuron 1, telomeric
HGNC id 11117
corresponding disease(s) AMCSMA1 , SMA , SMA2 , SMA3 , SMA4
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional   amplification    
abnormal gene copy number increases the susceptibility to amyotrophic lateral sclerosis
Susceptibility to amyotrophic lateral sclerosis (ALS)
Variant & Polymorphism other one copy of SMN1 was associated with an increased risk of developing ALS
Candidate gene
Therapy target use of single-stranded oligonucleotides to direct genetic conversion of SMN2 to SMN1 in human cells from SMA patients
  • Smn-/- mice died during the peri-implantation stage, whereas transgenic mice harbouring SMN2 in the Smn-/- background showed pathological changes in the spinal cord and skeletal muscles similar to those of SMA patients
  • mouse lacking the C-terminus of SMN lack nuclear targeting in the motor neuron of the SMN protein
  • Drosophila smn mutant show abnormal motor behavior, excitatory post-synaptic currents are reduced while synaptic motor neuron boutons are disorganized indicating defects at the neuromuscular junction
  • Caenorhabditis elegans with deletion of smn-1 display locomotor dysfunction, late larval arrest, reduced lifespan sterility and impaired pharyngeal activity