ATXN1

ataxin 1

Ensembl:
ENSG00000124788
UniProt:
P54253
OMIM:
601556
Synonyms:
ATX1, D6S504E, SCA1

Cilia effects upon perturbation of ATXN1

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-16.58) PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
spinocerebellar ataxia type 1

Subcellular localization

cilia associated gene, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the ATXN1 gene cause Spinocerebellar Ataxia (PMID: 17190598).