spinocerebellar ataxia type 6

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by progresive ataxia, has_material_basis_in mutation in the CACNA1A gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050956
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
773 CACNA1A calcium voltage-gated channel subunit alpha1 A
Displaying 1 entry
Gene ID Gene Symbol Description Source
12286 Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
Displaying 1 entry
Gene ID Gene Symbol Description Source
25398 Cacna1a calcium voltage-gated channel subunit alpha1 A
Displaying 1 entry
Gene ID Gene Symbol Description Source
32158 cac cacophony
Displaying all 2 entries
Gene ID Gene Symbol Description Source
562059 cacna1aa calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, a
569528 cacna1ab calcium channel, voltage-dependent, P/Q type, alpha 1A subunit, b

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024