EFA6A

exchange factor for ARF6, A

Ensembl:
ENSG00000158816
UniProt:
A5PKW4
Synonyms:
PSD, PSCD1, SEC7L1

Cilia effects upon perturbation of EFA6A

Cilia number / % ciliated:
Decrease
Loss-of-function effect:
Decrease

Ciliopathy associations

  • Retinal Dystrophy/Degeneration

Subcellular localization

cilia, photoreceptor outer segment, retinal pigment epithelium

Functional category

  • Ciliary assembly/disassembly
  • Ciliary membrane

Function

EFA6A, an exchange factor for the small G protein Arf6, is essential for visual function through its role in photoreceptor cilia. Present in multiple retinal layers including photoreceptors and RPE. Depletion causes morphological and functional defects in photoreceptors resembling retinal ciliopathies, and impairs RPE phagocytic activity. Previously described as a regulator of early ciliogenesis by promoting distal appendage vesicle fusion (PMID:41858616). EFA6A depletion causes morphological and functional defects in photoreceptors resembling retinal ciliopathies; impairs RPE phagocytic activity. Essential for visual function via photoreceptor cilia.

Model organism evidence

Mus musculus (1 reference)

Here, we report that EFA6A, an exchange factor for the small G protein Arf6, previously described as a regulator of early ciliogenesis by promoting distal appendage vesicle fusion, is essential for visual function.

PMIDs: 41858616