MedlinePlus Health Topics

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420258
http://purl.bioontology.org/ontology/MEDLINEPLUS/C1420258
Preferred Name

survival of motor neuron 2, centromeric

Definitions
The SMN2 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with highest levels in the spinal cord. This protein is one of a group of proteins called the SMN complex, which is important for the maintenance of specialized nerve cells called motor neurons. These cells are located in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Motor neurons transmit signals from the brain and spinal cord that tell skeletal muscles to tense (contract), which allows the body to move.~Several different versions of the SMN protein are produced from the SMN2 gene, but only one version (called isoform d) is full size and functional. The other versions are smaller and quickly broken down. The full-size protein made from the SMN2 gene is identical to the protein made from a similar gene called SMN1; however, only 10 to 15 percent of all functional SMN protein is produced from the SMN2 gene (the rest is produced from the SMN1 gene). Typically, people have two copies of the SMN1 gene and one to two copies of the SMN2 gene in each cell. However, the number of copies of the SMN2 gene varies, with some people having up to eight copies. The more SMN2 gene copies a person has, the more SMN protein they produce.~In cells, the SMN complex plays an important role in processing molecules called messenger RNA (mRNA), which serve as genetic blueprints for making proteins. Messenger RNA begins as a rough draft (pre-mRNA) and goes through several processing steps to become a final, mature form. The SMN complex helps to assemble the cellular machinery needed to process pre-mRNA. The SMN complex is also important for the development of specialized outgrowths from nerve cells called dendrites and axons. Dendrites and axons are required for the transmission of impulses between neurons and from neurons to muscles.
Synonyms
SMN_HUMAN
SMN2
SMNC
BCD541
C-BCD541
centromeric SMN
Type http://www.w3.org/2002/07/owl#Class
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