Gigaxonin

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GAN
Protein GAN PDB 2ppi.png
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGAN, GAN1, KLHL16, gigaxonin
External IDsMGI: 1890619 HomoloGene: 32523 GeneCards: GAN
Gene location (Human)
Chromosome 16 (human)
Chr.Chromosome 16 (human)[1]
Chromosome 16 (human)
Genomic location for GAN
Genomic location for GAN
Band16q23.2Start81,314,952 bp[1]
End81,390,884 bp[1]
RNA expression pattern
PBB GE GAN 220124 at fs.png
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022041

NM_001081151

RefSeq (protein)

NP_071324

NP_001074620

Location (UCSC)Chr 16: 81.31 – 81.39 MbChr 8: 117.16 – 117.22 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.[5][6][7]

Function[edit]

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.[7]

See also[edit]

References[edit]

  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000261609 - Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000052557 - Ensembl, May 2017
  3. ^ "Human PubMed Reference:". 
  4. ^ "Mouse PubMed Reference:". 
  5. ^ 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. doi:10.1002/ana.410430126. PMID 9450783. 
  6. ^ 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. doi:10.1038/81701. PMID 11062483. 
  7. ^ a b "Entrez Gene: GAN giant axonal neuropathy (gigaxonin)". 

Further reading[edit]