Gigaxonin

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.[4][5][6]

GAN
Available structures
PDBOrtholog search: PDBe RCSB
Identifiers
AliasesGAN, GAN1, KLHL16, gigaxonin, GIG
External IDsOMIM: 605379 MGI: 1890619 HomoloGene: 32523 GeneCards: GAN
Gene location (Human)
Chr.Chromosome 16 (human)[1]
Band16q23.2Start81,314,966 bp[1]
End81,380,198 bp[1]
RNA expression pattern
More reference expression data
Orthologs
SpeciesHumanMouse
Entrez

8139

209239

Ensembl

ENSG00000261609

ENSMUSG00000052557

UniProt

Q9H2C0

Q8CA72

RefSeq (mRNA)

NM_022041
NM_001377486

NM_001081151

RefSeq (protein)

NP_071324

NP_001074620

Location (UCSC)Chr 16: 81.31 – 81.38 Mbn/a
PubMed search[2][3]
Wikidata
View/Edit HumanView/Edit Mouse

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.[6]

See also

References

  1. GRCh38: Ensembl release 89: ENSG00000261609 - Ensembl, May 2017
  2. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  3. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. 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. S2CID 33206272.
  5. 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. S2CID 2917153.
  6. "Entrez Gene: GAN giant axonal neuropathy (gigaxonin)".

Further reading


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