Disease

Ataxia-ocular Apraxia 2

About the Disease
Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2, also known as aoa2, is related to ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia and oculomotor apraxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 2 is SETX (Senataxin), and among its related pathways/superpathways are G-protein signaling RAC1 in cellular process and DNA-PK pathway in nonhomologous end joining. Affiliated tissues include eye, spinal cord and cerebellum, and related phenotypes are ataxia and areflexia

Common Targets
PIK3R5 | SETX | APTX

疾病靶点研报
Ataxia-ocular Apraxia 2

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