Species Human Entrez 6102 | Human Mouse Ensembl ENSG00000102218 | |
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Aliases RP2, DELXp11.3, NM23-H10, NME10, TBCCD2, Xretinitis pigmentosa 2 (X-linked recessive) External IDs MGI: 1277953 HomoloGene: 5042 GeneCards: RP2 | ||
Protein XRP2 is a protein that in humans is encoded by the RP2 gene.
Function
The RP2 locus has been implicated as one cause of X-linked retinitis pigmentosa. The predicted gene product shows homology with human cofactor C, a protein involved in the ultimate step of beta-tubulin folding. Progressive retinal degeneration may therefore be due to the accumulation of incorrectly folded photoreceptor or neuron-specific tubulin isoforms followed by progressive cell death. The RP2 protein is also involved in regulating the function and extension of outer segment of cone photoreceptors in mice
References
RP2 (gene) Wikipedia(Text) CC BY-SA