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C2ORF71


Official Full Name
photoreceptor cilium actin regulator
Organism
Homo sapiens
Gene ID
388939
Background
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]
Synonyms
PCARE; RP54; C2orf71

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