Cerebellar Ataxia Type 48 (SCA48)

Cerebellar Ataxia Type 48, also known as sca48, is related to spinocerebellar ataxia, autosomal recessive 16 and aceruloplasminemia. An important gene associated with Cerebellar Ataxia Type 48 is STUB1 (STIP1 Homology And U-Box Containing Protein 1), and among its related pathways/superpathways are Akt Signaling and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include cerebellum, and related phenotypes are nervous system and behavior/neurological