Disease

Spinocerebellar Ataxia Type 28

About the Disease
Spinocerebellar Ataxia 28, also known as spinocerebellar ataxia type 28, is related to hereditary ataxia and kearns-sayre syndrome, and has symptoms including muscle spasticity and gait ataxia. An important gene associated with Spinocerebellar Ataxia 28 is AFG3L2 (AFG3 Like Matrix AAA Peptidase Subunit 2), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and Mitochondrial calcium ion transport. Affiliated tissues include spinal cord, eye and cerebellum, and related phenotypes are dysarthria and gait ataxia

Common Targets
HTT | AFG3L2

疾病靶点研报
Spinocerebellar Ataxia Type 28

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