Survival motor neuron protein 1 (SMN1)

Survival motor neuron protein 1 (SMN1) is a ubiquitously expressed protein best known as a critical motor neuron maintenance factor and a cornerstone for snRNP assembly, essential for correct mRNA splicing. SMN1 works as part of a multi-protein SMN complex that controls the maturation and localization of snRNPs, formation of nuclear gems, and neuronal outgrowth. Genetic deficiency of SMN1 leads to spinal muscular atrophy (SMA) due to selective degeneration of spinal motor neurons, and SMA severity is influenced by SMN2 copy number. Therapies target the gene, protein, or related homologues in attempts to boost SMN protein levels or replace the gene to rescue motor neuron function.

Other names

SMNSMNTSMNCBCD541SMA1SMA2SMA3SMA4GEMIN1TDRD16AGemin-1survival motor neuron proteincomponent of gems 1tudor domain containing 16Atelomeric SMNSMN_HUMANT-BCD541

Nusinersen: antisense oligonucleotide modulates SMN2 pre-mRNA splicing, increases functional SMN protein levels. Onasemnogene abeparvovec-xioi: gene replacement therapy providing functional SMN1 gene. Risdiplam: small molecule modulating SMN2 splicing and protein production.