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The protein encoded by this gene is highly expressed in photoreceptors and may associate with the primary cilium of the outer segment. The encoded protein appears to undergo post-translational lipid modification. Nonsense and missense variants of this gene appear to cause a recessive form of retinitis pigmentosa.
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Protein Aliases: Photoreceptor cilium actin regulator
Gene Aliases: C2orf71; PCARE; RP54
UniProt ID: (Human) A6NGG8
Entrez Gene ID: (Human) 388939
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