Gigaxonin is associated with the Golgi and dimerises via its BTB domain.
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.
Cullen
Valerie C
VC
Departments of Neuroscience and Neurology, PO Box P037, Institute of Psychiatry, Kings College London, De Crespigny Park, Denmark Hill, London SE5 8AF, UK.
Brownlees
Janet
J
Banner
Steven
S
Anderton
Brian H
BH
Leigh
P Nigel
PN
Shaw
Christopher E
CE
Miller
Christopher C J
CC
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
D003598:Cytoskeletal Proteins; D004268:DNA-Binding Proteins; C416508:GAN protein, human