BEST1

bestrophin 1

Ensembl:
ENSG00000167995
UniProt:
O76090
OMIM:
607854
Synonyms:
BEST, BMD, RP50, VMD2

Cilia effects upon perturbation of BEST1

Ciliogenesis screen results (2 screens)

  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680

Phenotypes

Human ciliopathy phenotype:
retinitis pigmentosa 50; retinitis pigmentosa

Subcellular localization

cilia associated gene, cytosol

Functional category

  • Ciliary assembly/disassembly
  • Signaling (Hedgehog, GPCRs, ion channels)

Function

Mutations in the BEST1 gene cause Retinitis Pigmentosa (PMID: 19853238).