SMN1

Gene

survival of motor neuron 1, telomeric

HGNCHGNC:11117 EnsemblENSG00000172062 NCBI Gene6606

Locus: gene with protein productLocation: 5q13.2

Encodes

via encodes

The protein product this gene encodes, reached through the canonical GENE→PROTEIN (encodes) relation. Its biology, drugs, indications, trials and therapeutic evidence live on the protein's own page.

Survival motor neuron proteinQ16637

Protein · therapeutic target

Clinically validated target · 1 approved medicine against this target

Explore protein biology & therapeutics

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asSMA@ · SMA · BCD541 · SMNT · SMA1 · SMA2 · SMA3 · GEMIN1 · TDRD16A

View full nomenclature history (12)

Previous symbolsSMA@, SMA

Alias symbolsBCD541, SMNT, SMA1, SMA2, SMA3, GEMIN1, TDRD16A

Previous namesspinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)

Alias namesgemin-1, tudor domain containing 16A

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Spinal Muscular Atrophies of Childhood

Spinal muscular atrophy, type 1

Proximal spinal muscular atrophy type 2

Muscular Atrophy, Spinal

spinal muscular atrophy, type IV

Proximal spinal muscular atrophy type 4

Proximal spinal muscular atrophy

Neurodegenerative Diseases

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Tudor domain containingSMN complexProteins encoded by multiple genes

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.

Open TargetsGene–disease associations from the Open Targets Platform.