BASEBiological Archive
for Science & Education
Search
HomeExploreSMN1
Gene

SMN1

survival of motor neuron 1, telomeric

Encodes the SMN protein needed by motor neurons; loss of both functional copies causes most spinal muscular atrophy.

NCBI GENE IDENTIFIER6606View source record ↗

Overview

EXPLORE BY LEVEL

SMN1 is a gene that carries instructions for the SMN protein. Motor neurons, the nerve cells that control muscles, need this protein to survive.

Quick Facts

AT A GLANCE
OrganismHomo sapiens
Chromosome5q13.2
ParalogSMN2 (nearly identical; mostly produces a shortened, unstable protein)

Follow the Connections

See how SMN1 links to other biological records.

Open network
OrganismHomo sapiensfound inDiseaseSpinal Muscular atrophypathogenic variants cause
All 2 Structured Connections
SMN1 · GeneFOUND IN →Homo sapiens · Organism
SMN1 · GenePATHOGENIC VARIANTS CAUSE →Spinal Muscular atrophy · Disease

Recommended Reading

Trusted references for learning more about SMN1.

databaseSMN1 geneMedlinePlus Genetics databaseSpinal muscular atrophyMedlinePlus Genetics databaseSMN1 survival of motor neuron 1, telomeric (Gene ID 6606)NCBI Gene
Research Claims

Most spinal muscular atrophy results from loss of both functional SMN1 copies; SMN2 copy number modifies severity.

NCBI Gene records SMN1 (Gene ID 6606) on human chromosome 5q13.2.