Gigaxonin information

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)
End	81,390,809 bp
RNA expression pattern
	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
	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
	8139
	209239
	ENSG00000261609
	ENSMUSG00000052557
	Q9H2C0
	Q8CA72
	NM_022041; NM_001377486
	NM_001081151
	NP_071324
	NP_001074620
	Wikidata
View/Edit Human	View/Edit Mouse

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

^ ^a ^b ^c GRCh38: Ensembl release 89: ENSG00000261609 – Ensembl, May 2017
^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschutter A, Ranells J, Camfield PR, Ptacek LJ (Feb 1998). "Localization of the giant axonal neuropathy gene to chromosome 16q24". Ann Neurol. 43 (1): 143–8. doi:10.1002/ana.410430126. PMID 9450783. S2CID 33206272.
^ Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tuysuz B, Landrieu P, Hentati F, Koenig M (Dec 2000). "The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy". Nat Genet. 26 (3): 370–4. doi:10.1038/81701. PMID 11062483. S2CID 2917153.
^ Cite error: The named reference entrez was invoked but never defined (see the help page).

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