Retinitis pigmentosa 1: (Biological Classification > Low Complexity Regions / Repeats > RefOG002) - Retinitis pigmentosa 1 (RP1) is a major gene responsible for both autosomal dominant and autosomal recessive retinitis pigmentosa (Hartong DT et al, 2006). Retinitis pigmentosa is a group of inherited disorders in which abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium of the retina lead to progressive visual loss. This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two doublecortin domains, which bind microtubules and regulate microtubule polymerization. Generally, doublecortin-like domains (DCX), which typically occur in tandem, are microtubule-binding modules (Kim MH et al, 2003) and mutations in members of this protein superfamily are linked to several genetic diseases (Reiner O et al, 2006).
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