VARIANT: 3064v1
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Entry
3064v1 Variant
Name
HTT mutation
Gene
HTT
huntingtin [KO:
K04533
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
613004
Network
nt06410
Calcium signaling
nt06413
Autophagy
nt06414
Apoptosis
nt06416
TNF signaling
nt06418
Oxidative phosphorylation
nt06419
Microtubule-based transport
nt06420
Ubiquitin-proteasome system
nt06440
Transcription
nt06461
Huntington disease
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
Reference
PMID:
20301482
Authors
Caron NS, Wright GEB, Hayden MR
Title
Huntington Disease
Journal
GeneReviews (1993)
All links
Gene (1)
OMIMVAR (1)
Literature (1)
PubMed (1)
All databases (2)
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