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GAN encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. Additionally we are shipping GAN Antibodies (42) and GAN Kits (8) and many more products for this protein.
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gigaxonin is a major factor in the degradation of cytoskeletal intermediate filaments
GAN variants are identified in brain sections of mutant mice with giant axonal neuropathy.
results identify gigaxonin as a ubiquitin scaffolding protein that controls MAP1B (show MAP1B Proteins)-LC degradation, and provide insight into the molecular mechanisms underlying human neurodegenerative disorders
Disruption of gigaxonin results in an impaired ubiquitin-proteasome system leading to a substantial accumulation of toxic microtubule-associated protein (show SPAG5 Proteins) MAP8 (show MAP1S Proteins) in the null mutants.
At 6 months of age the Gigaxonin-knockout(Deltaexon1;Deltaexon1) mice exhibit a modest hind limb muscle atrophy, a 10% decrease of muscle innervation and a 27% axonal loss in the L5 ventral roots.
The disease is caused by GAN gene mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN.
This study showed that The instability of Gigaxonin causes Giant Axonal Neuropathy.
A novel missense mutation in four siblings born to consanguineous parents of Arab origin with clinical and molecular features compatible with giant axonal neuropathy.
No GAN variant is identified in DNA obtained from well-characterized cases of human neuronal intermediate filament inclusion disease (frontotemporal dementia).
Gigaxonin interacts with tubulin folding cofactor B and controls its degradation through the ubiquitin-proteasome pathway.
Ubiquitin-proteasome system shown to be responsible for neurodegeneration occurring in GAN-null neurons and plays crucial roles in cytoskeletal functions and dynamics.
3 new mutants were found in patients with giant axonal neuropathy: an intronic mutation near the splice donor site of intron 2 & a missense mutation in exon 3 (I182N), & 2 identical deletion alleles.
Five families with GAN for mutations in the Gigaxonin gene and mutations were found in four families; three families had homozygous mutations, one had two compound heterozygous mutations and one family had no mutation identified.
gigaxonin mutations impede this ubiquitin degradation process leading to accumulation of microtubule associated proteins and there by impairing cellular functions
This gene encodes a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The encoded protein plays a role in neurofilament architecture and is involved in mediating the ubiquitination and degradation of some proteins. Defects in this gene are a cause of giant axonal neuropathy (GAN).
, giant axonal neuropathy
, giant axonal neuropathy (gigaxonin)
, kelch-like family member 16
, kelch-like protein 16