Official Full Name
retinitis pigmentosa 2 (X-linked recessive)
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.
RP2; retinitis pigmentosa 2 (X-linked recessive); protein XRP2; NME10; TBCCD2; DELXp11.3; KIAA0215; Retinitis pigmentosa 2 (X linked recessive); Retinitis pigmentosa 2; RP 2; TBCCD 2; XRP2; XRP2 protein; NM23 H10; NM23-H10; retinitis pigmentosa 2 homolog; zfrp2; zgc:55632; wu:fj10e02; wu:fm72d05