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Genetics Home Reference: your guide to understanding genetic conditions
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SPG7

Reviewed January 2008

What is the official name of the SPG7 gene?

The official name of this gene is “spastic paraplegia 7 (pure and complicated autosomal recessive).”

SPG7 is the gene's official symbol. The SPG7 gene is also known by other names, listed below.

What is the normal function of the SPG7 gene?

The SPG7 gene provides instructions for producing a protein called paraplegin, which is a member of the AAA protein family. This protein family plays a role in many cellular activities, including regulation of cell components and proteins. Located within the inner membrane of the energy-producing centers of cells (mitochondria), paraplegin is one of the proteins that form a complex called the m-AAA protease. The m-AAA protease is responsible for assembling ribosomes (cellular structures that process the cell's genetic instructions to create proteins) and removing nonfunctional proteins in the mitochondria.

How are changes in the SPG7 gene related to health conditions?

spastic paraplegia type 7 - caused by mutations in the SPG7 gene

More than 10 mutations that cause spastic paraplegia type 7 have been found. Most of these mutations change single protein building blocks (amino acids) in the protein paraplegin. When paraplegin is mutated, it cannot organize with other proteins within the mitochondria to form the m-AAA protease. The buildup of unusable proteins in nerve cells, caused by the nonfunctional m-AAA protease, can impair mitochondrial functioning and diminish nerve cell signaling, leading to the major signs and symptoms of spastic paraplegia type 7.

Where is the SPG7 gene located?

Cytogenetic Location: 16q24.3

Molecular Location on chromosome 16: base pairs 89,508,393 to 89,557,765

The SPG7 gene is located on the long (q) arm of chromosome 16 at position 24.3.

The SPG7 gene is located on the long (q) arm of chromosome 16 at position 24.3.

More precisely, the SPG7 gene is located from base pair 89,508,393 to base pair 89,557,765 on chromosome 16.

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 SPG7?

You and your healthcare professional may find the following resources about SPG7 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the SPG7 gene or gene products?

  • CAR
  • cell adhesion regulator
  • CMAR
  • FLJ37308
  • MGC126331
  • MGC126332
  • paraplegin, isoform 1
  • PGN
  • spastic paraplegia 7
  • SPG5C
  • SPG7_HUMAN

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 SPG7?

acids ; autosomal ; autosomal recessive ; cell ; cell adhesion ; gene ; mitochondria ; nerve cell ; paraplegia ; protease ; protein ; recessive ; ribosomes

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol. 2003 Nov 24;163(4):777-87. Epub 2003 Nov 17. (http://www.ncbi.nlm.nih.gov/pubmed/14623864?dopt=Abstract)
  • Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, Grid D, Tallaksen CM, Zemmouri R, Stevanin G, Durr A, Brice A. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology. 2006 Mar 14;66(5):654-9. (http://www.ncbi.nlm.nih.gov/pubmed/16534102?dopt=Abstract)
  • McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, Casari G, Turnbull DM, Bushby K, Shaw PJ. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology. 2001 Feb 27;56(4):467-71. (http://www.ncbi.nlm.nih.gov/pubmed/11222789?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/6687)
  • Rugarli EI, Langer T. Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia. Trends Mol Med. 2006 Jun;12(6):262-9. Epub 2006 May 2. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16647881?dopt=Abstract)
  • Settasatian C, Whitmore SA, Crawford J, Bilton RL, Cleton-Jansen AM, Sutherland GR, Callen DF. Genomic structure and expression analysis of the spastic paraplegia gene, SPG7. Hum Genet. 1999 Jul-Aug;105(1-2):139-44. (http://www.ncbi.nlm.nih.gov/pubmed/10480368?dopt=Abstract)
  • OMIM: SPG7 GENE (http://omim.org/entry/602783)
  • Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P. A novel form of autosomal recessive hereditary spastic paraplegia caused by a new SPG7 mutation. Neurology. 2007 Jul 24;69(4):368-75. (http://www.ncbi.nlm.nih.gov/pubmed/17646629?dopt=Abstract)
  • Wilkinson PA, Crosby AH, Turner C, Bradley LJ, Ginsberg L, Wood NW, Schapira AH, Warner TT. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. Brain. 2004 May;127(Pt 5):973-80. Epub 2004 Feb 25. Erratum in: Brain. 2004 Sep;127(Pt 9):2148. (http://www.ncbi.nlm.nih.gov/pubmed/14985266?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 healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: January 2008
Published: December 16, 2014