ATXN8

ataxin 8

Ensembl:: ENSG00000288330
UniProt:: Q156A1

Cilia effects upon perturbation of ATXN8

Phenotypes

Human ciliopathy phenotype:: spinocerebellar ataxia type 8

Subcellular localization

cilia associated gene

Functional category

Ciliary assembly/disassembly

Function

Mutations in the ATXN8 gene cause Spinocerebellar Ataxia (PMID: 18418692).

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