title: Gigaxonin is associated with the Golgi and dimerises via its BTB domain.
abstract: Mutations in the gigaxonin gene cause giant axonal neuropathy. The amino-terminus of gigaxonin contains a BTB domain but no binding partners for this domain have so far been identified. Here, we demonstrate that the gigaxonin BTB domain forms homodimers. Other BTB-bearing proteins have also been shown to dimerise via their BTB domains with the dimers then capable of interacting with other ligands. Thus, the gigaxonin BTB domain may function in a similar manner. We also demonstrate that gigaxonin is expressed in a wide variety of neuronal cell types where a significant proportion exists in cell bodies. Confocal microscope studies of gigaxonin-transfected COS-7 cells and cultured neurones revealed that a proportion of gigaxonin localises to the Golgi and endoplasmic reticulum.
authors.affiliation: Departments of Neuroscience and Neurology, PO Box P037, Institute of Psychiatry, Kings College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK.
authors.forename: Valerie C
authors.initials: VC
authors.lastname: Cullen
authors.forename: Janet
authors.initials: J
authors.lastname: Brownlees
authors.forename: Steven
authors.initials: S
authors.lastname: Banner
authors.forename: Brian H
authors.initials: BH
authors.lastname: Anderton
authors.forename: P Nigel
authors.initials: PN
authors.lastname: Leigh
authors.forename: Christopher E
authors.initials: CE
authors.lastname: Shaw
authors.forename: Christopher C J
authors.initials: CC
authors.lastname: Miller
mesh_terms: D000818:Animals; D015153:Blotting, Western / Q000379:methods; D002478:Cells, Cultured; D002522:Chlorocebus aethiops; D006224:Cricetinae; D003412:Cricetulus; D003598:Cytoskeletal Proteins / Q000235:genetics / Q000378:metabolism*; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics / Q000378:metabolism*; D019281:Dimerization; D004721:Endoplasmic Reticulum / Q000378:metabolism; D006056:Golgi Apparatus / Q000378:metabolism*; D006801:Humans; D007150:Immunohistochemistry / Q000379:methods; D007231:Infant, Newborn; D009154:Mutation; D009474:Neurons / Q000378:metabolism*; D051381:Rats; D017386:Sequence Homology, Amino Acid; D014162:Transfection / Q000379:methods; D020798:Two-Hybrid System Techniques; D015003:Yeasts
chemical_list: D003598:Cytoskeletal Proteins; D004268:DNA-Binding Proteins; C416508:GAN protein, human