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
External Links
Disease Ontology
DOID:0050956
Mondo Disease Ontology
OMIM
GARD
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
4351 MPI mannose phosphate isomerase
60481 ELOVL5 ELOVL fatty acid elongase 5
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P34949 Mannose-6-phosphate isomerase
Q9NYP7 Very long chain fatty acid elongase 5

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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: August 19, 2024