RP2( Human )

Entrez Gene 6102 Entrez Gene 6102
RP2, ARL3 GTPase activating protein

Alias

DELXp11.3|NM23-H10|NME10|TBCCD2|XRP2

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].

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