| Entry |
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| Name |
Mutation-activated TRPC3 to mGluR1-TRPC3 signaling pathway
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| Definition |
TRPC3* -> Ca2+ |
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| Expanded |
7222v1 -> 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 |
| 7222 | TRPC3; transient receptor potential cation channel subfamily C member 3 |
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| Variant |
7222v1 (TRPC3*) TRPC3 mutation
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| Metabolite |
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| Reference |
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| Authors |
Hisatsune C, Hamada K, Mikoshiba K |
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| Title |
Ca(2+) signaling and spinocerebellar ataxia. |
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| Journal |
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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 |
Becker EB, Oliver PL, Glitsch MD, Banks GT, Achilli F, Hardy A, Nolan PM, Fisher EM, Davies KE |
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| Title |
A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice. |
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| Journal |
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| LinkDB |
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