| Entry |
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| Name |
Mutation-activated ITPR1 to mGluR1-TRPC3 signaling pathway
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| Definition |
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> ITPR1* -> Ca2+ |
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| Expanded |
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> 3708v1 -> C00076 |
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| Class |
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| Type |
Variant
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| Pathway |
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| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
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| Gene |
| 2911 | GRM1; glutamate metabotropic receptor 1 |
| 2776 | GNAQ; G protein subunit alpha q |
| 23236 | PLCB1; phospholipase C beta 1 |
| 5330 | PLCB2; phospholipase C beta 2 |
| 5331 | PLCB3; phospholipase C beta 3 |
| 5332 | PLCB4; phospholipase C beta 4 |
| 3708 | ITPR1; inositol 1,4,5-trisphosphate receptor type 1 |
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| Variant |
3708v1 (ITPR1*) ITPR1 activating mutation
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| Metabolite |
| C01245 | D-myo-Inositol 1,4,5-trisphosphate |
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| Reference |
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| Authors |
Mark MD, Schwitalla JC, Groemmke M, Herlitze S |
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| Title |
Keeping Our Calcium in Balance to Maintain Our Balance. |
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| Journal |
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| Reference |
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| Authors |
Tada M, Nishizawa M, Onodera O |
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| Title |
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias. |
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| Journal |
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| Reference |
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| Authors |
Casey JP, Hirouchi T, Hisatsune C, Lynch B, Murphy R, Dunne AM, Miyamoto A, Ennis S, van der Spek N, O'Hici B, Mikoshiba K, Lynch SA |
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| Title |
A novel gain-of-function mutation in the ITPR1 suppressor domain causes spinocerebellar ataxia with altered Ca(2+) signal patterns. |
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| Journal |
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| LinkDB |
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