Gigaxonin

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GAN
Protein GAN PDB 2ppi.png
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases GAN, GAN1, KLHL16, gigaxonin
External IDs MGI: 1890619 HomoloGene: 32523 GeneCards: GAN
RNA expression pattern
PBB GE GAN 220124 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_022041

NM_001081151

RefSeq (protein)

NP_071324

NP_001074620.1
NP_001074620

Location (UCSC) Chr 16: 81.31 – 81.39 Mb Chr 8: 117.16 – 117.22 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.[3][4][5]

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.[5]

See also[edit]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: GAN giant axonal neuropathy (gigaxonin)". 

Further reading[edit]