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
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 human penis vulva nipple skin of abdomen corpus callosum cavity of mouth amniotic fluid palpebral conjunctiva middle temporal gyrus ventral tegmental area 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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Gigaxonin also known as kelch-like protein 16 is a protein that in humans is encoded by the GAN gene.^[4][5][6]

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]