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SPG20

SPG20

Reviewed January 2008

What is the official name of the SPG20 gene?

The official name of this gene is “spastic paraplegia 20 (Troyer syndrome).”

SPG20 is the gene's official symbol. The SPG20 gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the SPG20 gene?

The SPG20 gene provides instructions for producing a protein called spartin, whose function is not entirely understood. Researchers believe that spartin may be involved in a variety of cell functions, from breaking down proteins to transporting materials from the cell surface into the cell (endocytosis). Spartin is found in a wide range of body tissues, including the nervous system.

How are changes in the SPG20 gene related to health conditions?

Troyer syndrome - caused by mutations in the SPG20 gene

One mutation has been identified in people with Troyer syndrome. This mutation deletes a DNA building block (nucleotide) in the SPG20 gene. Specifically, this mutation deletes the nucleotide adenosine at position 1110 in the gene, written as 1110delA. This mutation results in an abnormally shortened, nonfunctioning spartin protein. It is unclear how this mutation causes the signs and symptoms of Troyer syndrome.

Where is the SPG20 gene located?

Cytogenetic Location: 13q13.3

Molecular Location on chromosome 13: base pairs 36,301,637 to 36,370,179

The SPG20 gene is located on the long (q) arm of chromosome 13 at position 13.3.

The SPG20 gene is located on the long (q) arm of chromosome 13 at position 13.3.

More precisely, the SPG20 gene is located from base pair 36,301,637 to base pair 36,370,179 on chromosome 13.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about SPG20?

You and your healthcare professional may find the following resources about SPG20 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 SPG20 gene or gene products?

  • KIAA0610
  • SPARTIN
  • spastic paraplegia 20
  • spastic paraplegia 20, spartin (Troyer syndrome)
  • SPG20_HUMAN
  • TAHCCP1
  • trans-activated by hepatitis C virus core protein 1

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding SPG20?

cell ; DNA ; endocytosis ; gene ; hepatitis ; mutation ; nervous system ; nucleotide ; paraplegia ; protein ; syndrome ; virus

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (7 links)

 

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? in the Handbook.

 
Reviewed: January 2008
Published: September 15, 2014