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Proc Natl Acad Sci U S A
Primary cilia signaling mediates intraocular pressure sensation.
IFT43, encoded by C14ORF179, is a subunit of the intraflagellar transport complex A (IFT-A) of primary cilia. The IFT-A is implicated in retrograde ciliary transport along axonemal microtubules. Defects in subunits of IFT-A has been associated with skeletal ciliopathies, including Sensenbrenner syndrome, Jeune syndrome, and Ellis-van-Creveld syndrome. Mutations in C14ORF179 has been linked to Sensenbrenner syndrome. (21378380)