Spinocerebellar Ataxia, Autosomal Recessive 16 (SCAR16)

Alias:

Autosomal Recessive Spinocerebellar Ataxia 16

Scar16

Autosomal Recessive Cerebellar Ataxia Due to Stub1 Deficiency

Ataxia, Spinocerebellar, Autosomal Recessive, Type 16

Spinocerebellar Ataxia Autosomal Recessive Type 16

Spinocerebellar Ataxia, Autosomal Recessive, 16

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, Autosomal Recessive 16, also known as autosomal recessive spinocerebellar ataxia 16, is related to spinocerebellar ataxia 48 and cerebellar ataxia type 48, and has symptoms including ataxia, truncal An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 16 is STUB1 (STIP1 Homology And U-Box Containing Protein 1), and among its related pathways/superpathways is Ubiquitination Cascade. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are dysarthria and cerebellar atrophy

Related ID：

MALACARDS：SPN273

OMIM：615768

MESH：D002524