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This gene encodes a member of the cytoskeletal BTB/kelch 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.
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Protein Aliases: gan; giant axonal neuropathy; Gigaxonin; kelch-like family member 16; Kelch-like protein 16
Gene Aliases: A330045G18; GAN; GAN1; gigaxonin; KLHL16
UniProt ID: (Human) Q9H2C0, (Mouse) Q8CA72
Entrez Gene ID: (Human) 8139, (Rat) 307893, (Mouse) 209239
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