Gigaxonin

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Gigaxonin
Protein GAN PDB 2ppi.png
PDB rendering based on 2ppi.
Available structures
PDB Ortholog search: PDBe, RCSB
Identifiers
Symbols GAN ; GAN1; KLHL16
External IDs OMIM605379 MGI1890619 HomoloGene32523 GeneCards: GAN Gene
RNA expression pattern
PBB GE GAN 220124 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 8139 209239
Ensembl ENSG00000127688 ENSMUSG00000052557
UniProt Q9H2C0 Q8CA72
RefSeq (mRNA) NM_022041 NM_001081151
RefSeq (protein) NP_071324 NP_001074620
Location (UCSC) Chr 16:
81.35 – 81.41 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[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.[3]

See also[edit]

References[edit]

  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. doi:10.1002/ana.410430126. PMID 9450783. 
  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. doi:10.1038/81701. PMID 11062483. 
  3. ^ a b "Entrez Gene: GAN giant axonal neuropathy (gigaxonin)". 

Further reading[edit]