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Genetics Home Reference: your guide to understanding genetic conditions     A service of the U.S. National Library of Medicine®


Reviewed April 2014

What is the official name of the ZFYVE26 gene?

The official name of this gene is “zinc finger, FYVE domain containing 26.”

ZFYVE26 is the gene's official symbol. The ZFYVE26 gene is also known by other names, listed below.

What is the normal function of the ZFYVE26 gene?

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).

Does the ZFYVE26 gene share characteristics with other genes?

The ZFYVE26 gene belongs to a family of genes called ZFYVE (zinc fingers, FYVE-type).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? ( in the Handbook.

How are changes in the ZFYVE26 gene related to health conditions?

spastic paraplegia type 15 - caused by mutations in the ZFYVE26 gene

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.

Where is the ZFYVE26 gene located?

Cytogenetic Location: 14q24.1

Molecular Location on chromosome 14: base pairs 67,729,569 to 67,816,611

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (

The ZFYVE26 gene is located on the long (q) arm of chromosome 14 at position 24.1.

The ZFYVE26 gene is located on the long (q) arm of chromosome 14 at position 24.1.

More precisely, the ZFYVE26 gene is located from base pair 67,729,569 to base pair 67,816,611 on chromosome 14.

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

Where can I find additional information about ZFYVE26?

You and your healthcare professional may find the following resources about ZFYVE26 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 ZFYVE26 gene or gene products?

  • FYVE domain-containing centrosomal protein
  • KIAA0321
  • spastizin
  • SPG15
  • zinc finger FYVE domain-containing protein 26

See How are genetic conditions and genes named? ( in the Handbook.

What glossary definitions help with understanding ZFYVE26?

autophagy ; cell ; cell division ; cytokinesis ; disability ; domain ; gene ; lysosome ; paraplegia ; protein

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


  • 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. (
  • NCBI Gene (
  • 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. (
  • 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. (


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: April 2014
Published: February 1, 2016