BEAN1

brain expressed associated with NEDD4 1

Ensembl:
ENSG00000166546
UniProt:
Q3B7T3
OMIM:
612051
Synonyms:
SCA31

Cilia effects upon perturbation of BEAN1

Ciliogenesis screen results (1 screen)

  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Mouse phenotype:
abnormal gait, increased eosinophil cell number, decreased lymphocyte cell number
Human ciliopathy phenotype:
spinocerebellar ataxia type 31

Subcellular localization

cilia associated gene, lysosomes

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the BEAN1 gene cause Spinocerebellar Ataxia (PMID: 19878914).