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Gigaxonin (GAN)

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GAN1; KLHL16; Giant Axonal Neuropathy; Kelch-like protein 16

Gigaxonin (GAN)
CCC J068
HGNC 4137
MGI 1890619
PubMed 23585478
RGD 1307766
UniProt Q9H2C0
Wiki GAN
GAN encodes 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.) The encoded protein plays a role in neurofilament architecture and is mutated in giant axonal neuropathy.gigaxonin controls protein degradation and is essential for neuronal function and survival. gigaxonin binds to the ubiquitin-activating enzyme E1 through its amino-terminal BTB domain, while the carboxy-terminal kelch repeat domain interacts directly with the light chain (LC) of microtubule-associated protein-1B (MAP1B). Overexpression of gigaxonin leads to enhanced degradation of MAP1B-LC, which could be antagonized by proteasome inhibitors. Ablation of gigaxonin caused a substantial accumulation of MAP1B-LC in GAN-null neurons.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ068Hu01 Recombinant Gigaxonin (GAN) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAJ068Hu01 Polyclonal Antibody to Gigaxonin (GAN) WB; IHC; ICC; IP.
MAJ068Hu21 Monoclonal Antibody to Gigaxonin (GAN) WB; IHC; ICC; IP.
Assay Kits SEJ068Hu ELISA Kit for Gigaxonin (GAN) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gigaxonin (GAN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gigaxonin (GAN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gigaxonin (GAN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gigaxonin (GAN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gigaxonin (GAN) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Gigaxonin (GAN) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Gigaxonin (GAN) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Gigaxonin (GAN) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Gigaxonin (GAN) CLIA Kit Customized Service Offer
n/a ELISA Kit for Gigaxonin (GAN) ELISA Kit Customized Service Offer
  1. "The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy."Nat. Genet. 26:370-374(2000) [PubMed] [Europe PMC] [Abstract]
  2. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  3. "Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin."J. Cell Biol. 158:427-433(2002) [PubMed] [Europe PMC] [Abstract]
  4. "Targeting of protein ubiquitination by BTB-Cullin 3-Roc1 ubiquitin ligases."Nat. Cell Biol. 5:1001-1007(2003) [PubMed] [Europe PMC] [Abstract]
  5. "Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway."Curr. Biol. 15:2050-2055(2005) [PubMed] [Europe PMC] [Abstract]
  6. "Ubiquitination of Keap1, a BTB-Kelch substrate adaptor protein for Cul3, targets Keap1 for degradation by a proteasome-independent pathway."J. Biol. Chem. 280:30091-30099(2005) [PubMed] [Europe PMC] [Abstract]
  7. "Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival."Nature 438:224-228(2005) [PubMed] [Europe PMC] [Abstract]
  8. "Ectodermal-neural cortex 1 down-regulates Nrf2 at the translational level."PLoS ONE 4:E5492-E5492(2009) [PubMed] [Europe PMC] [Abstract]
  9. "Structures of SPOP-substrate complexes: insights into molecular architectures of BTB-Cul3 ubiquitin ligases."Mol. Cell 36:39-50(2009) [PubMed] [Europe PMC] [Abstract]
  10. "Structure of the BTB (tramtrack and bric a brac) domain of human gigaxonin."Submitted (JUL-2011) to the PDB data bank
  11. "Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene."Neurology 58:1273-1276(2002) [PubMed] [Europe PMC] [Abstract]
  12. ErratumNeurology 58:1444-1444(2002)
  13. "Identification of seven novel mutations in the GAN gene."Hum. Mutat. 21:446-446(2003) [PubMed] [Europe PMC] [Abstract]
  14. "New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy."J. Neurol. Neurosurg. Psych. 78:1267-1270(2007) [PubMed] [Europe PMC] [Abstract]
  15. "Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN)."Neuromuscul. Disord. 17:624-630(2007) [PubMed] [Europe PMC] [Abstract]
  16. "Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges."J. Neurol. 261:970-982(2014) [PubMed] [Europe PMC] [Abstract]