| Entry |
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| Name |
CACNA1A gain-of-function mutation
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| Type |
Gain of function
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| Gene |
CACNA1A calcium voltage-gated channel subunit alpha1 A [KO: K04344]
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| Organism |
hsa_var Human gene variants (Homo sapiens)
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| Variation |
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| Network |
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| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
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| Reference |
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| Authors |
Toru S, Murakoshi T, Ishikawa K, Saegusa H, Fujigasaki H, Uchihara T, Nagayama S, Osanai M, Mizusawa H, Tanabe T |
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| Title |
Spinocerebellar ataxia type 6 mutation alters P-type calcium channel function. |
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| Journal |
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| Reference |
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| Authors |
Zhuchenko O, Bailey J, Bonnen P, Ashizawa T, Stockton DW, Amos C, Dobyns WB, Subramony SH, Zoghbi HY, Lee CC |
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| Title |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. |
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| Journal |
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| Reference |
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| Authors |
Kessi M, Chen B, Peng J, Yan F, Yang L, Yin F |
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| Title |
Calcium channelopathies and intellectual disability: a systematic review. |
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| Journal |
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| LinkDB |
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