Entry |
|
Name |
Mutation-activated CACNA1A to VGCC-Ca2+ -apoptotic pathway
|
Definition |
Ca2+(extracellular) -- CACNA1A* -> Ca2+ |
Expanded |
C00076 -- 773v1 -> C00076 |
Class |
|
Type |
Variant
|
Pathway |
|
Disease |
H00063 | Spinocerebellar ataxia (SCA) |
|
Gene |
773 | CACNA1A; calcium voltage-gated channel subunit alpha1 A |
|
Variant |
773v1 (CACNA1A*) CACNA1A mutation
|
Metabolite |
|
Reference |
|
Authors |
Carlson KM, Andresen JM, Orr HT |
Title |
Emerging pathogenic pathways in the spinocerebellar ataxias. |
Journal |
|
Reference |
|
Authors |
Restituito S, Thompson RM, Eliet J, Raike RS, Riedl M, Charnet P, Gomez CM |
Title |
The polyglutamine expansion in spinocerebellar ataxia type 6 causes a beta subunit-specific enhanced activation of P/Q-type calcium channels in Xenopus oocytes. |
Journal |
|