| Entry |
|
|---|
| Name |
Mutation-inactivated PRKCG to mGluR1-TRPC3 signaling pathway
|
|---|
| Definition |
Glutamate -> GRM1 -> GNAQ -> PLCB -> IP3 -> ITPR -> Ca2+ -> PRKCG* // TRPC3 |
|---|
| Expanded |
C00025 -> 2911 -> 2776 -> (23236,5330,5331,5332) -> C01245 -> (3708,3709,3710) -> C00076 -> 5582v1 // 7222 |
|---|
| Class |
|
|---|
| Type |
Variant
|
|---|
| Pathway |
|
|---|
| Disease |
| H00063 | Spinocerebellar ataxia (SCA) |
|
|---|
| Gene |
| 2911 | GRM1; glutamate metabotropic receptor 1 |
| 2776 | GNAQ; G protein subunit alpha q |
| 23236 | PLCB1; phospholipase C beta 1 |
| 5330 | PLCB2; phospholipase C beta 2 |
| 5331 | PLCB3; phospholipase C beta 3 |
| 5332 | PLCB4; phospholipase C beta 4 |
| 3708 | ITPR1; inositol 1,4,5-trisphosphate receptor type 1 |
| 3709 | ITPR2; inositol 1,4,5-trisphosphate receptor type 2 |
| 3710 | ITPR3; inositol 1,4,5-trisphosphate receptor type 3 |
| 5582 | PRKCG; protein kinase C gamma |
| 7222 | TRPC3; transient receptor potential cation channel subfamily C member 3 |
|
|---|
| Variant |
5582v1 (PRKCG*) PRKCG inactivating mutation
|
|---|
| Metabolite |
| C01245 | D-myo-Inositol 1,4,5-trisphosphate |
|
|---|
| Reference |
|
|---|
| Authors |
Hisatsune C, Hamada K, Mikoshiba K |
|---|
| Title |
Ca(2+) signaling and spinocerebellar ataxia. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N |
|---|
| Title |
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. |
|---|
| Journal |
|
|---|
| Reference |
|
|---|
| Authors |
Kasumu A, Bezprozvanny I |
|---|
| Title |
Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias. |
|---|
| Journal |
|
|---|
| LinkDB |
|
|---|
