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Gene Review

smn1  -  survival of motor neuron 1, telomeric

Danio rerio

Synonyms: SO:0000704, Survival motor neuron protein 1, fa12d01, smn, wu:fa12d01
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High impact information on smn1

  • We have demonstrated that smn1 (+) is essential for viability in S.pombe and yeast expressing missense mutations in Smn1p, which mimic mutations in patients with Type I SMA, show significant mislocalization of the protein and a decrease in cell viability [1].


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