Spinocerebellar Ataxia 44 (SCA44)

Alias:

Sca44

Spinocerebellar Ataxia Type 44

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia 44, also known as sca44, is related to autosomal dominant cerebellar ataxia and aceruloplasminemia. An important gene associated with Spinocerebellar Ataxia 44 is GRM1 (Glutamate Metabotropic Receptor 1), and among its related pathways/superpathways are Signal Transduction and Wnt / Hedgehog / Notch. Affiliated tissues include spinal cord and cerebellum, and related phenotypes are ataxia and dysmetria

Related ID：

MALACARDS：SPN418

OMIM：617691

MESH：D020754