Entry |
|
Name |
Mutation-inactivated KCND3 to transport of potassium
|
Definition |
K+ // KCND3* // K+(extracellular) |
Expanded |
C00238 // 3752v1 // C00238 |
Class |
|
Type |
Variant
|
Pathway |
|
Disease |
H00063 | Spinocerebellar ataxia (SCA) |
|
Gene |
3752 | KCND3; potassium voltage-gated channel subfamily D member 3 |
|
Variant |
3752v1 (KCND3*) KCND3 mutation
|
Metabolite |
|
Reference |
|
Authors |
Hsiao CT, Fu SJ, Liu YT, Lu YH, Zhong CY, Tang CY, Soong BW, Jeng CJ |
Title |
Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating. |
Journal |
|
Reference |
|
Authors |
Duarri A, Lin MC, Fokkens MR, Meijer M, Smeets CJ, Nibbeling EA, Boddeke E, Sinke RJ, Kampinga HH, Papazian DM, Verbeek DS |
Title |
Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner. |
Journal |
|