DEP domain containing 5, GATOR1 subcomplex subunit
Dernière mise à jour 4 Aug 2025
Respecte les directives éditoriales
- TéléchargerTélécharger
- Partager
- Language
- Discussion
- Version audio
- Ajouter aux sources préférées sur Google
The DEPDC5 gene provides instructions for making a protein that is part of a larger group of proteins (a complex) called GATOR1. This complex is made up of the DEPDC5 protein and proteins made from two other genes: NPRL2 and NPRL3. GATOR1 is found in cells throughout the body, where it regulates a signaling pathway called the mTOR pathway. The mTOR pathway is involved in cell growth and division (proliferation) and the creation (synthesis) of new proteins. In the brain, the mTOR pathway regulates many processes, including the growth and development of nerve cells and their ability to change and adapt over time (plasticity).
Normal function
The DEPDC5 gene provides instructions for making a protein that is part of a larger group of proteins (a complex) called GATOR1. This complex is made up of the DEPDC5 protein and proteins made from two other genes: NPRL2 and NPRL3. GATOR1 is found in cells throughout the body, where it regulates a signaling pathway called the mTOR pathway. The mTOR pathway is involved in cell growth and division (proliferation) and the creation (synthesis) of new proteins. In the brain, the mTOR pathway regulates many processes, including the growth and development of nerve cells and their ability to change and adapt over time (plasticity).
The GATOR1 complex blocks this pathway by stopping (inhibiting) the activity of a complex called mTOR complex 1 (mTORC1) that is integral to the mTOR pathway.
Conditions referring to this gene or chromosome
Other names
DEE111
DEP domain containing 5
DEP.5
FFEVF
FFEVF1
FPEVF
KIAA0645
Related patient information and medicines
Patient information leaflet
Voyager vers des lieux éloignés
Remember, even if a doctor is attending your trip, they may not be equipped with a large supply of medication. Before travelling, consult the Foreign and Commonwealth Office (FCO) website (see under 'Further Reading and References' below) for advice on travelling to your destination. In addition to political problems, there may be hostility.
Patient information leaflet
Cri du chat syndrome
Cri du chat syndrome is a chromosome problem caused by a missing piece of chromosome 5. The syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
Injection contraceptive
The contraceptive injection is an effec... It contains a progestogen hormone called depo medroxyprogesterone acetate (DMPA). Progestogen hormones are very similar to a woman's own hormone called progesterone. Depo-Provera ® is the brand used most often and it is given every 12 weeks. Sayana Press ® is very similar to Depo-Provera®and also contains.
Patient information leaflet
Dépression
Symptoms can affect day-to-day life and can become very distressing. Depression (also known as clinical depression, major depression or major depressive disorder) is a mental health condition. The main symptom is low mood (sadness), but it can also cause many other symptoms, such as a loss of enjoyment in things, problems thinking, and.
Patient information leaflet
Inhalateurs pour la MPOC
An inhaler is a device holding a medicine that you take by breathing in (inhaling). Inhalers are often used to treat chronic obstructive pulmonary disease (COPD). There are many different types of inhaler, which can be confusing. The purpose of this leaflet is to give information on the medicines that are inside inhalers, the various types of.
Patient information leaflet
Décongestionnants
Décongestionnants sont les médicaments that are used to help reduce the symptoms of a blocked ou stuffy nose. They may be helpful for congestion caused by various conditions. Most commonly, decongestants are used for a cold, sinusitis, hay fever, allergies and rhinitis. These medicines are available as nose drops or nasal sprays and also as tablets, capsules.
Lectures complémentaires et références
- DEP domain containing 5, GATOR1 subcomplex subunit; MedlinePlus, National Library of Medicine.
- Baldassari S, Licchetta L, Tinuper P, Bisulli F, Pippucci T. GATOR1 complex: the common genetic actor in focal epilepsies. J Med Genet. 2016 Aug;53(8):503-10. doi: 10.1136/jmedgenet-2016-103883. Epub 2016 May 19.
- Baulac S, Baldassari S. DEPDC5-Related Epilepsy. 2016 Sep 29 [updated 2023 Mar 9]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK385626/
- Baulac S, Ishida S, Marsan E, Miquel C, Biraben A, Nguyen DK, Nordli D, Cossette P, Nguyen S, Lambrecq V, Vlaicu M, Daniau M, Bielle F, Andermann E, Andermann F, Leguern E, Chassoux F, Picard F. Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations. Ann Neurol. 2015 Apr;77(4):675-83. doi: 10.1002/ana.24368. Epub 2015 Mar 13.
- Baulac S. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5. Prog Brain Res. 2014;213:123-39. doi: 10.1016/B978-0-444-63326-2.00007-7.
- Baulac S. mTOR signaling pathway genes in focal epilepsies. Prog Brain Res. 2016;226:61-79. doi: 10.1016/bs.pbr.2016.04.013. Epub 2016 Jun 7.
- Dibbens LM, de Vries B, Donatello S, Heron SE, Hodgson BL, Chintawar S, Crompton DE, Hughes JN, Bellows ST, Klein KM, Callenbach PM, Corbett MA, Gardner AE, Kivity S, Iona X, Regan BM, Weller CM, Crimmins D, O'Brien TJ, Guerrero-Lopez R, Mulley JC, Dubeau F, Licchetta L, Bisulli F, Cossette P, Thomas PQ, Gecz J, Serratosa J, Brouwer OF, Andermann F, Andermann E, van den Maagdenberg AM, Pandolfo M, Berkovic SF, Scheffer IE. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet. 2013 May;45(5):546-51. doi: 10.1038/ng.2599. Epub 2013 Mar 31.
- Ishida S, Picard F, Rudolf G, Noe E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. Epub 2013 Mar 31.
- Kurahashi H, Hirose S. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. 2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1169/
- Licchetta L, Pippucci T, Baldassari S, Minardi R, Provini F, Mostacci B, Plazzi G, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Study Group on SHE. Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients. Seizure. 2020 Jan;74:60-64. doi: 10.1016/j.seizure.2019.11.009. Epub 2019 Nov 23.
- Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM, Alsaadi T, Jain S, French J, Specchio N, Trinka E, Wiebe S, Auvin S, Cabral-Lim L, Naidoo A, Perucca E, Moshe SL, Wirrell EC, Tinuper P. International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1443-1474. doi: 10.1111/epi.17240. Epub 2022 May 3.
- Scheffer IE, Heron SE, Regan BM, Mandelstam S, Crompton DE, Hodgson BL, Licchetta L, Provini F, Bisulli F, Vadlamudi L, Gecz J, Connelly A, Tinuper P, Ricos MG, Berkovic SF, Dibbens LM. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol. 2014 May;75(5):782-7. doi: 10.1002/ana.24126. Epub 2014 Apr 14.
- Tinuper P, Bisulli F, Cross JH, Hesdorffer D, Kahane P, Nobili L, Provini F, Scheffer IE, Tassi L, Vignatelli L, Bassetti C, Cirignotta F, Derry C, Gambardella A, Guerrini R, Halasz P, Licchetta L, Mahowald M, Manni R, Marini C, Mostacci B, Naldi I, Parrino L, Picard F, Pugliatti M, Ryvlin P, Vigevano F, Zucconi M, Berkovic S, Ottman R. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology. 2016 May 10;86(19):1834-42. doi: 10.1212/WNL.0000000000002666. Epub 2016 Apr 15.
- van Kranenburg M, Hoogeveen-Westerveld M, Nellist M. Preliminary functional assessment and classification of DEPDC5 variants associated with focal epilepsy. Hum Mutat. 2015 Feb;36(2):200-9. doi: 10.1002/humu.22723. Epub 2014 Nov 27.
- Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S. Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia. Epilepsia. 2016 Jun;57(6):994-1003. doi: 10.1111/epi.13391. Epub 2016 May 13.
Participez à la conversation
Partagez vos pensées ou expériences avec les autres dans notre communautés de patients.
Demandez, partagez, connectez-vous.
Parcourez les discussions, posez des questions et partagez vos expériences sur des centaines de sujets de santé.
Inscrivez-vous à la newsletter Patient
Votre dose hebdomadaire de conseils de santé clairs et fiables - rédigés pour vous aider à vous sentir informé, confiant et maître de la situation.
En vous abonnant, vous acceptez notre Politique de confidentialité. Vous pouvez vous désabonner à tout moment. Nous ne vendons jamais vos données.