Protein Name | RP2 activator of ARL3 GTPase |
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Organism | Homo sapiens |
Gene ID | 6102 |
Gene Symbol | RP2 |
UniProt | O75695 (XRP2_HUMAN), A0A1B2JLU2 (A0A1B2JLU2_HUMAN) |
Relationships |
Total Number of functionally related compound(s) :
79
Total Number of Articles : 58 |
Description |
RP2 activator of ARL3 GTPase |
Gene Summary |
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 [provided by RefSeq, Jul 2008] |
synonyms |
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Properties | |