KEGG   VARIANT: 3064v1
Entry
3064v1                      Variant                                
Name
HTT mutation
Gene
HTT  huntingtin [KO:K04533]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613004
Network
nt06461  Huntington disease
nt06466  Pathways of neurodegeneration
  Element
N00977  Mutation-caused aberrant Htt to retrograde axonal transport
N00979  Mutation-caused aberrant Htt to anterograde axonal transport
N00980  Mutation-caused aberrant Htt to REST-mediated transcriptional repression
N00981  Mutation-caused aberrant Htt to CREB-mediated transcription
N00982  Mutation-caused aberrant Htt to p53-mediated transcription
N00983  Mutation-caused aberrant Htt to extrinsic apoptotic pathway
N00985  Mutation-caused aberrant Htt to mGluR5-Ca2+ -apoptotic pathway
N00986  Mutation-caused aberrant Htt to VGCC-Ca2+ -apoptotic pathway
N00987  Mutation-caused aberrant Htt to transport of calcium
N00989  Mutation-caused aberrant Htt to electron transfer in Complex II
N00991  Mutation-caused aberrant Htt to electron transfer in Complex III
N00992  Mutation-caused aberrant Htt to TNF-JNK signaling pathway
N00993  Mutation-caused aberrant Htt to autophagy-vesicle nucleation
N01061  Mutation-caused aberrant Htt to 26S proteasome-mediated protein degradation
Disease
H00059  Huntington disease
Drug target
Tominersen (DG03151): D12012 D12013
Reference
PMID:20301482
  Authors
Caron NS, Wright GEB, Hayden MR
  Title
Huntington Disease
  Journal
GeneReviews (1993)
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