KEGG   VARIANT: 6683v2
Entry
6683v2                      Variant                                
Name
SPAST gain-of-function mutation
Type
Gain of function
Gene
SPAST  spastin [KO:K13254]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604277
Network
nt06541  Cytoskeleton in neurons
Disease
H00266  Hereditary spastic paraplegia
Reference
  Authors
Liu Q, Zhang G, Ji Z, Lin H
  Title
Molecular and cellular mechanisms of spastin in neural development and disease (Review).
  Journal
Int J Mol Med 48:218 (2021)
DOI:10.3892/ijmm.2021.5051
Reference
  Authors
Qiang L, Piermarini E, Muralidharan H, Yu W, Leo L, Hennessy LE, Fernandes S, Connors T, Yates PL, Swift M, Zholudeva LV, Lane MA, Morfini G, Alexander GM, Heiman-Patterson TD, Baas PW
  Title
Hereditary spastic paraplegia: gain-of-function mechanisms revealed by new transgenic mouse.
  Journal
Hum Mol Genet 28:1136-1152 (2019)
DOI:10.1093/hmg/ddy419
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