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FLASH GENE

Symbol

SMN1

contributors: shn/npt/pgu - updated : 15-10-2013

HGNC name	survival of motor neuron 1, telomeric
HGNC id	11117

FLASH GENE DNA RNA EXPRESSION PROTEIN DISORDER ANIMAL & CELL MODELS

ASSOCIATED DISORDERS

corresponding disease(s)

AMCSMA1 , SMA , SMA2 , SMA3 , SMA4

Other morbid association(s)

Type Gene Modification Chromosome rearrangement Protein expression Protein 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
Marker
Therapy target	use of single-stranded oligonucleotides to direct genetic conversion of SMN2 to SMN1 in human cells from SMA patients

ANIMAL & CELL MODELS

	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