Gene Symbol | PCARE |
Entrez Gene ID | 388939 |
Full Name | chromosome 2 open reading frame 71 |
Synonyms | RP54 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Retinitis pigmentosa 54, 613428 (3) |