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Open Access Articles- Top Results for Gigaxonin

Gigaxonin

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Identifiers
SymbolsGAN ; GAN1; KLHL16
External IDsOMIM605379 MGI1890619 HomoloGene32523 GeneCards: GAN Gene
RNA expression pattern
File:PBB GE GAN 220124 at tn.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez8139209239
EnsemblENSG00000261609ENSMUSG00000052557
UniProtQ9H2C0Q8CA72
RefSeq (mRNA)NM_022041NM_001081151
RefSeq (protein)NP_071324NP_001074620
Location (UCSC)Chr 16:
81.35 – 81.42 Mb
Chr 8:
117.16 – 117.21 Mb
PubMed search[1][2]

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.[1][2][3]

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

References

  1. Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, Camfield PR, Ptacek LJ (Feb 1998). "Localization of the giant axonal neuropathy gene to chromosome 16q24". Ann Neurol 43 (1): 143–8. PMID 9450783. doi:10.1002/ana.410430126. 
  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 (Dec 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. PMID 11062483. doi:10.1038/81701. 
  3. 3.0 3.1 "Entrez Gene: GAN giant axonal neuropathy (gigaxonin)". 

Further reading

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