GAN (gene)

From Wikipedia, the free encyclopedia

Giant axonal neuropathy (gigaxonin)

PDB rendering based on 2ppi.

Available structures: 2ppi

Identifiers

Symbol(s)

GAN; FLJ38059; GAN1; KLHL16

External IDs

OMIM: 605379 MGI: 1890619 HomoloGene: 32523

Gene ontology
Molecular Function:	• molecular_function • protein binding
Cellular Component:	• cytoskeleton • neurofilament
Biological Process:	• biological_process

RNA expression pattern

More reference expression data

Orthologs

Human

Mouse

n/a

n/a

Refseq

NM_022041 (mRNA)
NP_071324 (protein)

XM_001001161 (mRNA)
XP_001001161 (protein)

Location

Chr 16: 79.91 - 79.97 Mb

n/a

Pubmed search

[1]

[2]

Giant axonal neuropathy (gigaxonin), also known as GAN, is a human gene.^[1]

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.^[1]

[edit] References

^ ^a ^b Entrez Gene: GAN giant axonal neuropathy (gigaxonin).

[edit] 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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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.