Gene Symbol | GAN |
Entrez Gene ID | 8139 |
Full Name | gigaxonin |
Synonyms | GAN1,KLHL16 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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). [provided by RefSeq, Oct 2008]. |
Disorder MIM: | |
Disorder Html: | Giant axonal neuropathy-1, 256850 (3) |