RP2


RP2 activator of ARL3 GTPase


ENTREZID: 6102 | Type: Protein Coding | Map: Xp11.3

OMIM: 613028 | 607174 | 605309 | 601728 | 176807 | 158350


Summary Entrez
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]