Disease

Spinocerebellar Ataxia Type 16

About the Disease
Spinocerebellar Ataxia 15, also known as sca15, is related to spinocerebellar ataxia 29 and spinocerebellar ataxia 5, and has symptoms including cerebellar ataxia, action tremor and static tremor. An important gene associated with Spinocerebellar Ataxia 15 is ITPR1 (Inositol 1,4,5-Trisphosphate Receptor Type 1), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and PKC-gamma calcium signaling pathway in ataxia. Affiliated tissues include spinal cord, cerebellum and eye, and related phenotypes are hyperreflexia and gait ataxia

Common Targets
STUB1

疾病靶点研报
Spinocerebellar Ataxia Type 16

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