Name
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photoreceptor cilium actin regulator | Cytological Location | 2p23.2 |
Brief Description | photoreceptor cilium actin regulator |
Description | 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] |