KEGG   VARIANT: 8139v1
Entry
8139v1                      Variant                                
Name
GAN mutation
Type
Loss of function
Gene
GAN  gigaxonin [KO:K10453]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605379
Network
nt06541  Cytoskeleton in neurons
Disease
H01259  Giant axonal neuropathy
Reference
PMID:31944090
  Authors
Chen PH, Hu J, Wu J, Huynh DT, Smith TJ, Pan S, Bisnett BJ, Smith AB, Lu A, Condon BM, Chi JT, Boyce M
  Title
Gigaxonin glycosylation regulates intermediate filament turnover and may impact giant axonal neuropathy etiology or treatment.
  Journal
JCI Insight 5:127751 (2020)
DOI:10.1172/jci.insight.127751
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