Spinocerebellar Ataxia, X-Linked 4 (SCAX4)

Alias:

Scax4

X-Linked Spinocerebellar Ataxia Type 4

X-Linked Ataxia-Dementia Syndrome

X-Linked Spinocerebellar Ataxia 4

Spinocerebellar Ataxia, X-Linked, 4

Ataxia-Dementia Syndrome, X-Linked

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, X-Linked 4, also known as scax4, is related to spinocerebellar ataxia, x-linked 5 and spinocerebellar ataxia 18. An important gene associated with Spinocerebellar Ataxia, X-Linked 4 is ATP2B3 (ATPase Plasma Membrane Ca2+ Transporting 3), and among its related pathways/superpathways are CREB Pathway and Response to elevated platelet cytosolic Ca2+. Related phenotypes are progressive cerebellar ataxia and abnormal pyramidal sign

Related ID：

MALACARDS：SPN363

OMIM：301840

MESH：C537316