| Entry |
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| Name |
Mutation-inactivated KCND3 to transport of potassium
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| Definition |
K+ // KCND3* // K+(extracellular) |
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| Expanded |
C00238 // 3752v1 // C00238 |
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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 |
| 3752 | KCND3; potassium voltage-gated channel subfamily D member 3 |
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| Variant |
3752v1 (KCND3*) KCND3 mutation
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| Metabolite |
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| Reference |
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| Authors |
Hsiao CT, Fu SJ, Liu YT, Lu YH, Zhong CY, Tang CY, Soong BW, Jeng CJ |
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| Title |
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating. |
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| Journal |
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| Reference |
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| Authors |
Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS |
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| Title |
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. |
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| Journal |
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| LinkDB |
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