Gigaxonin

Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.^[4][5][6]

GAN
Available structures PDB Ortholog search: PDBe RCSB List of PDB id codes 2PPI, 3HVE
Identifiers
Aliases	GAN, GAN1, KLHL16, gigaxonin, GIG, giant axonal neuropathy gene, GAN gene
External IDs	OMIM: 605379; MGI: 1890619; HomoloGene: 32523; GeneCards: GAN; OMA:GAN - orthologs
Gene location (Human) Chr. Chromosome 16 (human)[1] Band 16q23.2 Start 81,314,944 bp[1] End 81,390,809 bp[1]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in skin of thigh skin of hip human penis vulva nipple gingival epithelium testicle skin of abdomen corpus callosum oral cavity n/a More reference expression data BioGPS More reference expression data
Gene ontology Molecular function protein binding ubiquitin-protein transferase activity molecular function Cellular component cytoplasm Cul3-RING ubiquitin ligase complex cytoskeleton cytosol Biological process cytoskeleton organization protein ubiquitination post-translational protein modification Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 8139 209239 Ensembl ENSG00000261609 ENSMUSG00000052557 UniProt Q9H2C0 Q8CA72 RefSeq (mRNA) NM_022041 NM_001377486 NM_001081151 RefSeq (protein) NP_071324 NP_001074620 Location (UCSC) Chr 16: 81.31 – 81.39 Mb n/a PubMed search [2] [3]
Wikidata
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Function

Gigaxonin is a member of the cytoskeletal BTB / kelch (Broad-Complex, Tramtrack and Bric a brac) repeat family. (Kelch repeats are predicted to form a beta-propeller shape.) Gigaxonin plays a role in neurofilament architecture and is mutated in giant axonal neuropathy.^[6]

See also

• Giant axonal neuropathy with curly hair