GAN (gene)

Giant axonal neuropathy (gigaxonin), also known as GAN, is a human gene.

PBB_Summary
section_title =
summary_text = This gene encodes 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.) The encoded protein plays a role in neurofilament architecture and is mutated in giant axonal neuropathy.cite web | title = Entrez Gene: GAN giant axonal neuropathy (gigaxonin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=8139| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Yang Y, Allen E, Ding J, Wang W |title=Giant axonal neuropathy. |journal=Cell. Mol. Life Sci. |volume=64 |issue= 5 |pages= 601–9 |year= 2007 |pmid= 17256086 |doi= 10.1007/s00018-007-6396-4
*cite journal | author=Flanigan KM, Crawford TO, Griffin JW, "et al." |title=Localization of the giant axonal neuropathy gene to chromosome 16q24. |journal=Ann. Neurol. |volume=43 |issue= 1 |pages= 143–8 |year= 1998 |pmid= 9450783 |doi= 10.1002/ana.410430126
*cite journal | author=Bomont P, Cavalier L, Blondeau F, "et al." |title=The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. |journal=Nat. Genet. |volume=26 |issue= 3 |pages= 370–4 |year= 2000 |pmid= 11062483 |doi= 10.1038/81701
*cite journal | author=Kuhlenbäumer G, Young P, Oberwittler C, "et al." |title=Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. |journal=Neurology |volume=58 |issue= 8 |pages= 1273–6 |year= 2002 |pmid= 11971098 |doi=
*cite journal | author=Ding J, Liu JJ, Kowal AS, "et al." |title=Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. |journal=J. Cell Biol. |volume=158 |issue= 3 |pages= 427–33 |year= 2002 |pmid= 12147674 |doi= 10.1083/jcb.200202055
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Bomont P, Ioos C, Yalcinkaya C, "et al." |title=Identification of seven novel mutations in the GAN gene. |journal=Hum. Mutat. |volume=21 |issue= 4 |pages= 446 |year= 2003 |pmid= 12655563 |doi= 10.1002/humu.9122
*cite journal | author=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Benzinger A, Muster N, Koch HB, "et al." |title=Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer. |journal=Mol. Cell Proteomics |volume=4 |issue= 6 |pages= 785–95 |year= 2005 |pmid= 15778465 |doi= 10.1074/mcp.M500021-MCP200
*cite journal | author=Allen E, Ding J, Wang W, "et al." |title=Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival. |journal=Nature |volume=438 |issue= 7065 |pages= 224–8 |year= 2005 |pmid= 16227972 |doi= 10.1038/nature04256
*cite journal | author=Wang W, Ding J, Allen E, "et al." |title=Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway. |journal=Curr. Biol. |volume=15 |issue= 22 |pages= 2050–5 |year= 2006 |pmid= 16303566 |doi= 10.1016/j.cub.2005.10.052
*cite journal | author=Olsen JV, Blagoev B, Gnad F, "et al." |title=Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. |journal=Cell |volume=127 |issue= 3 |pages= 635–48 |year= 2006 |pmid= 17081983 |doi= 10.1016/j.cell.2006.09.026
*cite journal | author=Leung CL, Pang Y, Shu C, "et al." |title=Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients. |journal=BMC Genet. |volume=8 |issue= |pages= 6 |year= 2007 |pmid= 17331252 |doi= 10.1186/1471-2156-8-6
*cite journal | author=Houlden H, Groves M, Miedzybrodzka Z, "et al." |title=New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. |journal=J. Neurol. Neurosurg. Psychiatr. |volume=78 |issue= 11 |pages= 1267–70 |year= 2007 |pmid= 17578852 |doi= 10.1136/jnnp.2007.118968
*cite journal | author=Koop O, Schirmacher A, Nelis E, "et al." |title=Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). |journal=Neuromuscul. Disord. |volume=17 |issue= 8 |pages= 624–30 |year= 2007 |pmid= 17587580 |doi= 10.1016/j.nmd.2007.03.012

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