Spinocerebellar Ataxia, X-Linked 3 (SCAX3)

Alias:

Scax3

X-Linked Spinocerebellar Ataxia Type 3

X-Linked Ataxia-Deafness Syndrome

X-Linked Ataxia-Hearing Loss Syndrome

X-Linked Spinocerebellar Ataxia 3

Spinocerebellar Ataxia, X-Linked, 3

Ataxia-Deafness Syndrome, X-Linked

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Spinocerebellar Ataxia, X-Linked 3, also known as scax3, is related to spinocerebellar ataxia, x-linked 5 and spinocerebellar ataxia 18, and has symptoms including cerebellar ataxia, lethargy and seizures. An important gene associated with Spinocerebellar Ataxia, X-Linked 3 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 ataxia and hypotonia

Related ID：

MALACARDS：SPN364

OMIM：301790

MESH：C537315