GAN (gene)

Giant axonal neuropathy (gigaxonin)
PDB rendering based on 2ppi.
Available structures PDB Ortholog search: Template:Homologene2PDBe PDBe, Template:Homologene2uniprot RCSB List of PDB id codes 2ppi​
Identifiers
Symbols	GAN ; FLJ38059; GAN1; KLHL16
External IDs	Template:OMIM5 Template:MGI HomoloGene: 32523
Gene ontology Molecular function Template:GNF GO Template:GNF GO Cellular component Template:GNF GO Template:GNF GO Biological process Template:GNF GO
RNA expression pattern
More reference expression data
Orthologs
Template:GNF Ortholog box
Species	Human	Mouse
Entrez	n/a	n/a
Ensembl	n/a	n/a
UniProt	n/a	n/a
RefSeq (mRNA)	n/a	n/a
RefSeq (protein)	n/a	n/a
Location (UCSC)	n/a	n/a
PubMed search	n/a	n/a

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

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.

Further reading

• Yang Y, Allen E, Ding J, Wang W (2007). "Giant axonal neuropathy". Cell. Mol. Life Sci. 64 (5): 601–9. doi:10.1007/s00018-007-6396-4. PMID 17256086.CS1 maint: Multiple names: authors list (link)
• Flanigan KM, Crawford TO, Griffin JW; et al. (1998). "Localization of the giant axonal neuropathy gene to chromosome 16q24". Ann. Neurol. 43 (1): 143–8. doi:10.1002/ana.410430126. PMID 9450783.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bomont P, Cavalier L, Blondeau F; et al. (2000). "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. doi:10.1038/81701. PMID 11062483.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Kuhlenbäumer G, Young P, Oberwittler C; et al. (2002). "Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene". Neurology. 58 (8): 1273–6. PMID 11971098.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ding J, Liu JJ, Kowal AS; et al. (2002). "Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin". J. Cell Biol. 158 (3): 427–33. doi:10.1083/jcb.200202055. PMID 12147674.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Strausberg RL, Feingold EA, Grouse LH; et al. (2003). "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. doi:10.1073/pnas.242603899. PMID 12477932.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Bomont P, Ioos C, Yalcinkaya C; et al. (2003). "Identification of seven novel mutations in the GAN gene". Hum. Mutat. 21 (4): 446. doi:10.1002/humu.9122. PMID 12655563.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Ota T, Suzuki Y, Nishikawa T; et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. doi:10.1038/ng1285. PMID 14702039.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Gerhard DS, Wagner L, Feingold EA; et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Benzinger A, Muster N, Koch HB; et al. (2005). "Targeted proteomic analysis of 14-3-3 sigma, a p53 effector commonly silenced in cancer". Mol. Cell Proteomics. 4 (6): 785–95. doi:10.1074/mcp.M500021-MCP200. PMID 15778465.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Allen E, Ding J, Wang W; et al. (2005). "Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival". Nature. 438 (7065): 224–8. doi:10.1038/nature04256. PMID 16227972.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Wang W, Ding J, Allen E; et al. (2006). "Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway". Curr. Biol. 15 (22): 2050–5. doi:10.1016/j.cub.2005.10.052. PMID 16303566.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Olsen JV, Blagoev B, Gnad F; et al. (2006). "Global, in vivo, and site-specific phosphorylation dynamics in signaling networks". Cell. 127 (3): 635–48. doi:10.1016/j.cell.2006.09.026. PMID 17081983.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Leung CL, Pang Y, Shu C; et al. (2007). "Alterations in lipid metabolism gene expression and abnormal lipid accumulation in fibroblast explants from giant axonal neuropathy patients". BMC Genet. 8: 6. doi:10.1186/1471-2156-8-6. PMID 17331252.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Houlden H, Groves M, Miedzybrodzka Z; et al. (2007). "New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy". J. Neurol. Neurosurg. Psychiatr. 78 (11): 1267–70. doi:10.1136/jnnp.2007.118968. PMID 17578852.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)
• Koop O, Schirmacher A, Nelis E; et al. (2007). "Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)". Neuromuscul. Disord. 17 (8): 624–30. doi:10.1016/j.nmd.2007.03.012. PMID 17587580.CS1 maint: Explicit use of et al. (link) CS1 maint: Multiple names: authors list (link)