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Normal Function
The ZFYVE26 gene provides instructions for making a protein called spastizin, which is found in most tissues. Spastizin is important in a process called autophagy, in which worn-out cell parts and unneeded proteins are recycled within cells. Specifically, spastizin is involved in the formation and maturation of sacs called autophagosomes (or autophagic vacuoles). Autophagosomes surround materials that need to be recycled. The autophagosome then attaches (fuses) to a cell structure called a lysosome, which breaks down and recycles the materials.
In addition to being involved in clearing cells of unneeded materials, spastizin also plays a role in ensuring the proper division of cells. During the final stages of cell division, spastizin participates in the process by which the dividing cells separate from one another (cytokinesis).
Health Conditions Related to Genetic Changes
Spastic paraplegia type 15
More than 30 mutations in the ZFYVE26 gene have been found to cause spastic paraplegia type 15. This condition is characterized by progressive movement problems, intellectual disability, and vision problems. Many of the ZFYVE26 gene mutations that cause this condition result in a shortened spastizin protein that is quickly broken down. As a result, functional autophagosomes are not produced, autophagy cannot occur, and recycling of materials within cells is decreased. An inability to break down unneeded materials, and the subsequent accumulation of these materials in cells, leads to cell dysfunction and often cell death. The loss of cells in the brain and other parts of the body is responsible for many of the features of spastic paraplegia type 15.
It is unclear whether a lack of spastizin protein interferes with normal cytokinesis and whether impaired cell division contributes to the signs and symptoms of spastic paraplegia type 15.
More About This Health ConditionOther Names for This Gene
- FYVE domain-containing centrosomal protein
- FYVE-CENT
- KIAA0321
- spastizin
- SPG15
- zinc finger FYVE domain-containing protein 26
- zinc finger, FYVE domain containing 26
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. doi: 10.1016/j.ajhg.2008.03.004. Citation on PubMed or Free article on PubMed Central
- Vantaggiato C, Clementi E, Bassi MT. ZFYVE26/SPASTIZIN: a close link between complicated hereditary spastic paraparesis and autophagy. Autophagy. 2014 Feb;10(2):374-5. doi: 10.4161/auto.27173. Epub 2013 Nov 26. Citation on PubMed
- Vantaggiato C, Crimella C, Airoldi G, Polishchuk R, Bonato S, Brighina E, Scarlato M, Musumeci O, Toscano A, Martinuzzi A, Santorelli FM, Ballabio A, Bresolin N, Clementi E, Bassi MT. Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15. Brain. 2013 Oct;136(Pt 10):3119-39. doi: 10.1093/brain/awt227. Epub 2013 Sep 11. Citation on PubMed or Free article on PubMed Central
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.