GAN gigaxonin [ Homo sapiens (human) ]
Source: NCBI Gene (ID 8139)
Source: NCBI Gene (ID 8139)
Symbol: GAN
Full name: gigaxonin
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Also known as: GAN1; GIG; KLHL16
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]
Expression: Broad expression in skin (RPKM 5.8), esophagus (RPKM 2.0) and 23 other tissues
Orthologs: mouse
Gene size: 75848bp
Exon count: 11