GAN Gene

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Li, V. GAN Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5627 (accessed on 20 September 2026).

Li V. GAN Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5627. Accessed September 20, 2026.

Li, Vivi. "GAN Gene" Encyclopedia, https://encyclopedia.pub/entry/5627 (accessed September 20, 2026).

Li, V. (2020, December 25). GAN Gene. In Encyclopedia. https://encyclopedia.pub/entry/5627

Li, Vivi. "GAN Gene." Encyclopedia. Web. 25 December, 2020.

GAN Gene

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/gan

Gigaxonin

genes

References

Allen E, Ding J, Wang W, Pramanik S, Chou J, Yau V, Yang Y.Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronalsurvival. Nature. 2005 Nov 10;438(7065):224-8.
Boizot A, Talmat-Amar Y, Morrogh D, Kuntz NL, Halbert C, Chabrol B, Houlden H,Stojkovic T, Schulman BA, Rautenstrauss B, Bomont P. The instability of theBTB-KELCH protein Gigaxonin causes Giant Axonal Neuropathy and constitutes a new penetrant and specific diagnostic test. Acta Neuropathol Commun. 2014 Apr24;2:47. doi: 10.1186/2051-5960-2-47.
Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E,Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenig M. The geneencoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat Genet. 2000 Nov;26(3):370-4.
Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M. Identification of seven novelmutations in the GAN gene. Hum Mutat. 2003 Apr;21(4):446.
Hentati F, Hentati E, Amouri R. Giant axonal neuropathy. Handb Clin Neurol.2013;115:933-8. doi: 10.1016/B978-0-444-52902-2.00052-7. Review.
Incecik F, Herguner OM, Ceylaner S, Zorludemir S, Altunbasak S. Giant axonaldisease: Report of eight cases. Brain Dev. 2015 Sep;37(8):803-7. doi:10.1016/j.braindev.2014.12.002.
Johnson-Kerner BL, Garcia Diaz A, Ekins S, Wichterle H. Kelch Domain ofGigaxonin Interacts with Intermediate Filament Proteins Affected in Giant Axonal Neuropathy. PLoS One. 2015 Oct 13;10(10):e0140157. doi:10.1371/journal.pone.0140157.
Johnson-Kerner BL, Roth L, Greene JP, Wichterle H, Sproule DM. Giant axonalneuropathy: An updated perspective on its pathology and pathogenesis. MuscleNerve. 2014 Oct;50(4):467-76. doi: 10.1002/mus.24321. Review.
Kuhlenbäumer G, Timmerman V, Bomont P. Giant Axonal Neuropathy. 2003 Jan 9[updated 2014 Oct 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1136/
Mahammad S, Murthy SN, Didonna A, Grin B, Israeli E, Perrot R, Bomont P,Julien JP, Kuczmarski E, Opal P, Goldman RD. Giant axonal neuropathy-associatedgigaxonin mutations impair intermediate filament protein degradation. J ClinInvest. 2013 May;123(5):1964-75. doi: 10.1172/JCI66387.

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Subjects: Genetics & Heredity

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Update Date: 25 Dec 2020

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