GAN: Human gigaxonin
PDB Code: 2PPI
Gigaxonin is a member of the cytoskeletal BTB/kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. The protein consists of a BTB domain, a BACK domain (BTB and C-terminal Kelch), and a C-terminal Kelch domain comprising six Kelch repeats.
Gigaxonin controls protein degradation and is essential for neuronal function and survival. Its amino-terminal BTB domain has been shown to bind to the ubiquitin-activating enzyme E1, while the carboxy-terminal kelch repeat domain interacts directly with the light chain (LC) of microtubule-associated protein-1B (MAP1B-LC). Overexpression of gigaxonin leads to enhanced degradation of MAP1B-LC whereas ablation of gigaxonin causes a substantial accumulation of MAP1B-LC in GAN-null neurons. High level of MAP1B in wildtype cortical neurons has been linked to cell death, whereas low MAP1B levels significantly improves the survival rate of null neurons. Mutations in human gigaxonin result in giant axonal neuropathy, a recessive motor and sensory neuropathy of the central and peripheral nervous system. Patients show a distortion of nerve fibers due to axonal swellings caused by the accumulation of neurofilaments. To date at least 24 distinct mutations have been identified in 20 patient families; mutations are evenly distributed throughout the coding sequence and include one insertion mutation at seventh amino acid, which leads to a premature termination, two deletions in the BTB domain, seven nonsense mutations in the kelch repeat domain and 14 missense mutations scattered over the entire coding region. Here we present the structure of the BTB domain of gigaxonin.

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