Species Human Entrez 6101 | Human Mouse Ensembl ENSG00000104237 | |
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Aliases RP1, DCDC4A, Oretinitis pigmentosa 1 (autosomal dominant) External IDs MGI: 1341105 HomoloGene: 4564 GeneCards: RP1 | ||
Oxygen-regulated protein 1 also known as retinitis pigmentosa 1 protein (RP1) is a protein that in humans is encoded by the RP1 gene.
Function
Initially named for its response to in vivo retinal oxygen levels (designated ORP1 for 'oxygen-regulated protein-1'), this gene was subsequently linked to autosomal dominant retinitis pigmentosa and was renamed RP1 for 'retinitis pigmentosa 1'. The data suggest that mutations in this gene cause dominant RP, and that the encoded protein has an important but unknown role in photoreceptor biology.
References
RP1 Wikipedia(Text) CC BY-SA