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URL of this page: https://medlineplus.gov/genetics/gene/epg5/

EPG5 gene

ectopic P-granules 5 autophagy tethering factor

Normal Function

The EPG5 gene provides instructions for making a protein that is involved in a cellular process called autophagy. This process recycles worn-out or unnecessary cell parts and breaks down certain proteins when they are no longer needed. Autophagy also helps cells use materials most efficiently when energy demands are high. During autophagy, materials to be recycled or removed are isolated in compartments called autophagosomes. The autophagosomes are then transported to cell structures called lysosomes that break down the materials. The EPG5 protein is important for the interaction between autophagosomes and lysosomes that allows the transfer of materials.

In addition to its role in autophagy, the EPG5 protein aids in the cell's ability to recognize infection from foreign invaders such as bacteria and viruses. The protein transports molecules from these invaders within cells so they can interact with immune system proteins that trigger reactions to fight the infection.

Health Conditions Related to Genetic Changes

Vici syndrome

At least 60 mutations in the EPG5 gene have been found to cause Vici syndrome, a severe condition that primarily affects the brain, immune system, heart, skin, and eyes. Most of these mutations lead to an abnormally short EPG5 protein that does not function. Without EPG5 protein activity, foreign invaders cannot trigger immune reactions, which leads to recurrent infections. In addition, autophagy is impaired. Researchers speculate that problems with autophagy disrupt the normal development and survival of cells in the brain and other organs and tissues that require large amounts of energy; however, they do not fully understand how the impairment leads to signs and symptoms of Vici syndrome.

More About This Health Condition

Other Names for This Gene

  • ectopic P granules protein 5 homolog
  • HEEW1
  • hEPG5
  • KIAA1632
  • VICIS

Additional Information & Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

  • Baron O, Boudi A, Dias C, Schilling M, Nolle A, Vizcay-Barrena G, Rattray I, Jungbluth H, Scheper W, Fleck RA, Bates GP, Fanto M. Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration. Curr Biol. 2017 Dec 4;27(23):3626-3642.e6. doi: 10.1016/j.cub.2017.10.054. Epub 2017 Nov 22. Citation on PubMed or Free article on PubMed Central
  • Cullup T, Kho AL, Dionisi-Vici C, Brandmeier B, Smith F, Urry Z, Simpson MA, Yau S, Bertini E, McClelland V, Al-Owain M, Koelker S, Koerner C, Hoffmann GF, Wijburg FA, ten Hoedt AE, Rogers RC, Manchester D, Miyata R, Hayashi M, Said E, Soler D, Kroisel PM, Windpassinger C, Filloux FM, Al-Kaabi S, Hertecant J, Del Campo M, Buk S, Bodi I, Goebel HH, Sewry CA, Abbs S, Mohammed S, Josifova D, Gautel M, Jungbluth H. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet. 2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. Citation on PubMed or Free article on PubMed Central
  • Hori I, Otomo T, Nakashima M, Miya F, Negishi Y, Shiraishi H, Nonoda Y, Magara S, Tohyama J, Okamoto N, Kumagai T, Shimoda K, Yukitake Y, Kajikawa D, Morio T, Hattori A, Nakagawa M, Ando N, Nishino I, Kato M, Tsunoda T, Saitsu H, Kanemura Y, Yamasaki M, Kosaki K, Matsumoto N, Yoshimori T, Saitoh S. Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017 Jun 14;7(1):3552. doi: 10.1038/s41598-017-02840-8. Citation on PubMed or Free article on PubMed Central
  • Piano Mortari E, Folgiero V, Marcellini V, Romania P, Bellacchio E, D'Alicandro V, Bocci C, Carrozzo R, Martinelli D, Petrini S, Axiotis E, Farroni C, Locatelli F, Schara U, Pilz DT, Jungbluth H, Dionisi-Vici C, Carsetti R. The Vici syndrome protein EPG5 regulates intracellular nucleic acid trafficking linking autophagy to innate and adaptive immunity. Autophagy. 2018;14(1):22-37. doi: 10.1080/15548627.2017.1389356. Epub 2018 Jan 2. Citation on PubMed or Free article on PubMed Central
  • Wang Z, Miao G, Xue X, Guo X, Yuan C, Wang Z, Zhang G, Chen Y, Feng D, Hu J, Zhang H. The Vici Syndrome Protein EPG5 Is a Rab7 Effector that Determines the Fusion Specificity of Autophagosomes with Late Endosomes/Lysosomes. Mol Cell. 2016 Sep 1;63(5):781-95. doi: 10.1016/j.molcel.2016.08.021. Citation on PubMed

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.