Gigaxonin Explained

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.^{[1] [2]}

Function

Gigaxonin is a member of the cytoskeletal BTB / kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.) Gigaxonin plays a role in neurofilament architecture and is mutated in giant axonal neuropathy.^[3]

See also

• Giant axonal neuropathy with curly hair

Further reading

• Yang Y, Allen E, Ding J, Wang W . Giant axonal neuropathy. . Cell. Mol. Life Sci. . 64 . 5 . 601–9 . 2007 . 17256086 . 10.1007/s00018-007-6396-4 . 8113473 . 11149474 .
• Kuhlenbäumer G, Young P, Oberwittler C, etal . Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. . Neurology . 58 . 8 . 1273–6 . 2002 . 11971098 . 10.1212/wnl.58.8.1273. 31121602 .
• Ding J, Liu JJ, Kowal AS, etal . Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. . J. Cell Biol. . 158 . 3 . 427–33 . 2002 . 12147674 . 10.1083/jcb.200202055 . 2173828 .
• Strausberg RL, Feingold EA, Grouse LH, etal . Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. . Proc. Natl. Acad. Sci. U.S.A. . 99 . 26 . 16899–903 . 2003 . 12477932 . 10.1073/pnas.242603899 . 139241 . 2002PNAS...9916899M . free .
• Bomont P, Ioos C, Yalcinkaya C, etal . Identification of seven novel mutations in the GAN gene. . Hum. Mutat. . 21 . 4 . 446 . 2003 . 12655563 . 10.1002/humu.9122 . 45580532 . free .
• Ota T, Suzuki Y, Nishikawa T, etal . Complete sequencing and characterization of 21,243 full-length human cDNAs. . Nat. Genet. . 36 . 1 . 40–5 . 2004 . 14702039 . 10.1038/ng1285 . free .
• Gerhard DS, Wagner L, Feingold EA, etal . The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). . Genome Res. . 14 . 10B . 2121–7 . 2004 . 15489334 . 10.1101/gr.2596504 . 528928 .
• Benzinger A, Muster N, Koch HB, etal . Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer. . Mol. Cell. Proteomics . 4 . 6 . 785–95 . 2005 . 15778465 . 10.1074/mcp.M500021-MCP200 . free .
• Allen E, Ding J, Wang W, etal . Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. . Nature . 438 . 7065 . 224–8 . 2005 . 16227972 . 10.1038/nature04256 . 2005Natur.438..224A . 4401163 .
• Wang W, Ding J, Allen E, etal . Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. . Curr. Biol. . 15 . 22 . 2050–5 . 2006 . 16303566 . 10.1016/j.cub.2005.10.052 . 13939886 . free .
• Olsen JV, Blagoev B, Gnad F, etal . Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. . Cell . 127 . 3 . 635–48 . 2006 . 17081983 . 10.1016/j.cell.2006.09.026 . 7827573 . free .
• Leung CL, Pang Y, Shu C, etal . Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. . BMC Genet. . 8 . 6 . 2007 . 17331252 . 10.1186/1471-2156-8-6 . 1810559 . free .
• Houlden H, Groves M, Miedzybrodzka Z, etal . New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. . J. Neurol. Neurosurg. Psychiatry . 78 . 11 . 1267–70 . 2007 . 17578852 . 2117591 . 10.1136/jnnp.2007.118968 .
• Koop O, Schirmacher A, Nelis E, etal . Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). . Neuromuscul. Disord. . 17 . 8 . 624–30 . 2007 . 17587580 . 10.1016/j.nmd.2007.03.012 . 23376570 .

Notes and References

1. Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, Camfield PR, Ptacek LJ . Localization of the giant axonal neuropathy gene to chromosome 16q24 . Ann Neurol . 43 . 1 . 143–8 . Feb 1998 . 9450783 . 10.1002/ana.410430126 . 33206272 .
2. Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M . The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy . Nat Genet . 26 . 3 . 370–4 . Dec 2000 . 11062483 . 10.1038/81701 . 2917153 .
3. Web site: Entrez Gene: GAN giant axonal neuropathy (gigaxonin).