C2orf71( Human )

Entrez Gene 388939 Entrez Gene 388939
chromosome 2 open reading frame 71

Alias

RP54

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. [provided by RefSeq, Jun 2010].

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