PSD

exchange factor for ARF6, A

Ensembl:: ENSG00000059915
Synonyms:: PSD, PSCD1, SEC7L1

Cilia effects upon perturbation of PSD

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

Phenotypes

Mouse phenotype:: abnormal eye morphology; abnormal spleen morphology; small spleen

Ciliopathy associations

Retinal Dystrophy/Degeneration

Subcellular localization

cilia, photoreceptor outer segment, RPE

Functional category

Trafficking (BBSome, small GTPases, vesicular transport, ATPases)
Ciliary assembly/disassembly

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.

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