Spinocerebellar Ataxia, X-Linked 1 (SCAX1)

Spinocerebellar Ataxia, X-Linked 1, also known as x-linked progressive cerebellar ataxia, is related to charcot-marie-tooth disease type 2a2b and spinocerebellar ataxia 20, and has symptoms including cerebellar ataxia and action tremor. An important gene associated with Spinocerebellar Ataxia, X-Linked 1 is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3), and among its related pathways/superpathways are Cardiac conduction and Splicing factor NOVA regulated synaptic proteins. Affiliated tissues include spinal cord and eye, and related phenotypes are progressive cerebellar ataxia and hyperreflexia