| Entry |
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| Name |
Mutation-caused aberrant Htt to transport of calcium
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| Definition |
HTT* // DLG4 -> NMDAR -> Ca2+ -- MCU -> Ca2+(mito) -- MPTP -> CYCS == APAF1 -> CASP9 -> CASP3 |
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| Expanded |
3064v1 // 1742 -> (2902+(2903,2904,2905,2906)) -> C00076 -- 90550 -> C00076 -- (7416,7417,7419,291,292,293,83447) -> 54205 == 317 -> 842 -> 836 |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
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| Gene |
| 1742 | DLG4; discs large MAGUK scaffold protein 4 |
| 2902 | GRIN1; glutamate ionotropic receptor NMDA type subunit 1 |
| 2903 | GRIN2A; glutamate ionotropic receptor NMDA type subunit 2A |
| 2904 | GRIN2B; glutamate ionotropic receptor NMDA type subunit 2B |
| 2905 | GRIN2C; glutamate ionotropic receptor NMDA type subunit 2C |
| 2906 | GRIN2D; glutamate ionotropic receptor NMDA type subunit 2D |
| 90550 | MCU; mitochondrial calcium uniporter |
| 7416 | VDAC1; voltage dependent anion channel 1 |
| 7417 | VDAC2; voltage dependent anion channel 2 |
| 7419 | VDAC3; voltage dependent anion channel 3 |
| 291 | SLC25A4; solute carrier family 25 member 4 |
| 292 | SLC25A5; solute carrier family 25 member 5 |
| 293 | SLC25A6; solute carrier family 25 member 6 |
| 83447 | SLC25A31; solute carrier family 25 member 31 |
| 54205 | CYCS; cytochrome c, somatic |
| 317 | APAF1; apoptotic peptidase activating factor 1 |
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| Variant |
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| Metabolite |
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| Reference |
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| Authors |
Bezprozvanny I, Hayden MR |
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| Title |
Deranged neuronal calcium signaling and Huntington disease. |
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| Journal |
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| Reference |
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| Authors |
Sun Y, Savanenin A, Reddy PH, Liu YF |
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| Title |
Polyglutamine-expanded huntingtin promotes sensitization of N-methyl-D-aspartate receptors via post-synaptic density 95. |
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| Journal |
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| LinkDB |
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