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spinocerebellar ataxia type 14

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050964
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
18752 Prkcg protein kinase C, gamma
Displaying 1 entry
Gene ID Gene Symbol Description Source
24681 Prkcg protein kinase C, gamma
Displaying 1 entry
Gene ID Gene Symbol Description Source
181166 pkc-2 Protein kinase C;Protein kinase C-like 2
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

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