Reviewed August 2012
What is the official name of the SMN1 gene?
The official name of this gene is “survival of motor neuron 1, telomeric.”
SMN1 is the gene's official symbol. The SMN1 gene is also known by other names, listed below.
What is the normal function of the SMN1 gene?
The SMN1 gene provides instructions for making the survival motor neuron (SMN) protein. The SMN protein is found throughout the body, with high levels in the spinal cord. This protein is particularly important for the maintenance of specialized nerve cells called motor neurons, which are located in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). Motor neurons control muscle movement.
In cells, the SMN protein 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 protein helps to assemble the cellular machinery needed to process pre-mRNA. Research findings indicate that the SMN protein 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 nerves and from nerves to muscles.
A small amount of SMN protein is produced from a gene similar to SMN1 called SMN2. The SMN2 gene provides instructions for making several versions of the SMN protein, but only one version is functional; the other versions are smaller and easily broken down.
How are changes in the SMN1 gene related to health conditions?
- spinal muscular atrophy - caused by mutations in the SMN1 gene
About 95 percent of individuals with spinal muscular atrophy have mutations that delete a section called exon 7 in both copies of the SMN1 gene in each cell. As a result, little or no SMN protein is made. In about 5 percent of people with this disorder, one copy of the SMN1 gene has a deletion of exon 7, and the other copy has a different mutation that disrupts the production or function of the SMN protein. Researchers have identified at least 65 mutations in the SMN1 gene that cause spinal muscular atrophy.
Motor neurons seem to be particularly vulnerable to a shortage of the SMN protein and die prematurely. Researchers suggest that a shortage of SMN protein leads to the inefficient assembly of the machinery needed to process pre-mRNA. Without mature mRNA, the production of proteins necessary for cell growth and function is disrupted. Some research findings indicate that a shortage of SMN protein impairs the formation and function of axons and dendrites, possibly leading to the death of neurons. While the cause of neuronal death is unclear, it is the loss of motor neurons that leads to the signs and symptoms of spinal muscular atrophy.
In some cases of spinal muscular atrophy, in addition to their SMN1 gene mutations, affected individuals have three or more copies of the SMN2 gene in each cell. Extra SMN2 genes can help replace some of the SMN protein that is lost due to mutations in the SMN1 genes. In general, symptoms are less severe and begin later in life in affected individuals with three or more copies of the SMN2 gene compared with those who have two copies of the gene.
- amyotrophic lateral sclerosis - increased risk from variations of the SMN1 gene
Some studies suggest that an abnormal number of SMN1 genes in each cell may be associated with an increased risk of developing amyotrophic lateral sclerosis (ALS), a condition characterized by progressive movement problems and muscle wasting. People with ALS are more likely to have three copies of the SMN1 gene in each cell, whereas people without the condition normally have two copies of the gene. The presence of extra SMN1 genes increases the amount of SMN protein that is produced. Too much SMN protein may impair the function of motor neurons, which increases the risk of developing ALS.
Where is the SMN1 gene located?
Cytogenetic Location: 5q13.2
Molecular Location on chromosome 5: base pairs 70,924,941 to 70,953,015
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/6606))
The SMN1 gene is located on the long (q) arm of chromosome 5 at position 13.2.
More precisely, the SMN1 gene is located from base pair 70,924,941 to base pair 70,953,015 on chromosome 5.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about SMN1?
You and your healthcare professional may find the following resources about SMN1 helpful.
Educational resources - Information pages
- Madame Curie Bioscience Collection: Proteins that Help with the Formation of RNA-Protein Complexes (http://www.ncbi.nlm.nih.gov/books/NBK6016/)
- Molecular Biology of the Cell (fourth edition, 2002): The Nucleus Contains a Variety of Subnuclear Structures (http://www.ncbi.nlm.nih.gov/books/NBK26887/)
- Washington University, St. Louis Neuromuscular Disease Center (http://neuromuscular.wustl.edu/synmot.html)
Gene Reviews - Clinical summary
- Gene Review: Amyotrophic Lateral Sclerosis Overview (http://www.ncbi.nlm.nih.gov/books/NBK1450)
- Gene Review: Spinal Muscular Atrophy (http://www.ncbi.nlm.nih.gov/books/NBK1352)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for SMN1 (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=6606%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28SMN1%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201080%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/600354)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_SMN1.html)
- HGNC Gene Family: Tudor domain containing (http://www.genenames.org/cgi-bin/genefamilies/set/780)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=11117)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6606)
What other names do people use for the SMN1 gene or gene products?
- telomeric SMN
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding SMN1?
gene conversion ;
messenger RNA ;
motor neuron ;
You may find definitions for these and many other terms in the Genetics Home Reference
- Blauw HM, Barnes CP, van Vught PW, van Rheenen W, Verheul M, Cuppen E, Veldink JH, van den Berg LH. SMN1 gene duplications are associated with sporadic ALS. Neurology. 2012 Mar 13;78(11):776-80. doi: 10.1212/WNL.0b013e318249f697. Epub 2012 Feb 8. (http://www.ncbi.nlm.nih.gov/pubmed/22323753?dopt=Abstract)
- Boda B, Mas C, Giudicelli C, Nepote V, Guimiot F, Levacher B, Zvara A, Santha M, LeGall I, Simonneau M. Survival motor neuron SMN1 and SMN2 gene promoters: identical sequences and differential expression in neurons and non-neuronal cells. Eur J Hum Genet. 2004 Sep;12(9):729-37. (http://www.ncbi.nlm.nih.gov/pubmed/15162126?dopt=Abstract)
- Briese M, Esmaeili B, Sattelle DB. Is spinal muscular atrophy the result of defects in motor neuron processes? Bioessays. 2005 Sep;27(9):946-57. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16108074?dopt=Abstract)
- Cartegni L, Hastings ML, Calarco JA, de Stanchina E, Krainer AR. Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2. Am J Hum Genet. 2006 Jan;78(1):63-77. Epub 2005 Nov 16. (http://www.ncbi.nlm.nih.gov/pubmed/16385450?dopt=Abstract)
- Corcia P, Camu W, Halimi JM, Vourc'h P, Antar C, Vedrine S, Giraudeau B, de Toffol B, Andres CR; French ALS Study Group. SMN1 gene, but not SMN2, is a risk factor for sporadic ALS. Neurology. 2006 Oct 10;67(7):1147-50. Epub 2006 Aug 23. (http://www.ncbi.nlm.nih.gov/pubmed/16931506?dopt=Abstract)
- Corcia P, Camu W, Praline J, Gordon PH, Vourch P, Andres C. The importance of the SMN genes in the genetics of sporadic ALS. Amyotroph Lateral Scler. 2009 Oct-Dec;10(5-6):436-40. doi: 10.3109/17482960902759162. (http://www.ncbi.nlm.nih.gov/pubmed/19922137?dopt=Abstract)
- Frugier T, Nicole S, Cifuentes-Diaz C, Melki J. The molecular bases of spinal muscular atrophy. Curr Opin Genet Dev. 2002 Jun;12(3):294-8. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12076672?dopt=Abstract)
- Gubitz AK, Feng W, Dreyfuss G. The SMN complex. Exp Cell Res. 2004 May 15;296(1):51-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15120993?dopt=Abstract)
- Jablonka S, Sendtner M. Molecular and cellular basis of spinal muscular atrophy. Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):144-9. Review. (http://www.ncbi.nlm.nih.gov/pubmed/13129800?dopt=Abstract)
- Kolb SJ, Battle DJ, Dreyfuss G. Molecular functions of the SMN complex. J Child Neurol. 2007 Aug;22(8):990-4. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17761654?dopt=Abstract)
- Mailman MD, Heinz JW, Papp AC, Snyder PJ, Sedra MS, Wirth B, Burghes AH, Prior TW. Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2. Genet Med. 2002 Jan-Feb;4(1):20-6. doi: 10.1097/00125817-200201000-00004. (http://www.ncbi.nlm.nih.gov/pubmed/11839954?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6606)
- Ogino S, Wilson RB. Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet. 2002 Dec;111(6):477-500. Epub 2002 Oct 3. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12436240?dopt=Abstract)
- Ogino S, Wilson RB. Spinal muscular atrophy: molecular genetics and diagnostics. Expert Rev Mol Diagn. 2004 Jan;4(1):15-29. Review. (http://www.ncbi.nlm.nih.gov/pubmed/14711346?dopt=Abstract)
- Paushkin S, Gubitz AK, Massenet S, Dreyfuss G. The SMN complex, an assemblyosome of ribonucleoproteins. Curr Opin Cell Biol. 2002 Jun;14(3):305-12. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12067652?dopt=Abstract)
- Pellizzoni L, Yong J, Dreyfuss G. Essential role for the SMN complex in the specificity of snRNP assembly. Science. 2002 Nov 29;298(5599):1775-9. (http://www.ncbi.nlm.nih.gov/pubmed/12459587?dopt=Abstract)
- Prior TW, Swoboda KJ, Scott HD, Hejmanowski AQ. Homozygous SMN1 deletions in unaffected family members and modification of the phenotype by SMN2. Am J Med Genet A. 2004 Oct 15;130A(3):307-10. (http://www.ncbi.nlm.nih.gov/pubmed/15378550?dopt=Abstract)
- OMIM: SURVIVAL OF MOTOR NEURON 1 (http://omim.org/entry/600354)
- Veldink JH, Kalmijn S, Van der Hout AH, Lemmink HH, Groeneveld GJ, Lummen C, Scheffer H, Wokke JH, Van den Berg LH. SMN genotypes producing less SMN protein increase susceptibility to and severity of sporadic ALS. Neurology. 2005 Sep 27;65(6):820-5. Epub 2005 Aug 10. (http://www.ncbi.nlm.nih.gov/pubmed/16093455?dopt=Abstract)
- Wirth B, Brichta L, Schrank B, Lochmüller H, Blick S, Baasner A, Heller R. Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number. Hum Genet. 2006 May;119(4):422-8. Epub 2006 Mar 1. (http://www.ncbi.nlm.nih.gov/pubmed/16508748?dopt=Abstract)
- Wirth B. An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA). Hum Mutat. 2000;15(3):228-37. Review. (http://www.ncbi.nlm.nih.gov/pubmed/10679938?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.