RPGR1 rabbit pAb

This gene encodes a photoreceptor protein that interacts with retinitis pigmentosa GTPase regulator protein and is a key component of cone and rod photoreceptor cells. Mutations in this gene lead to autosomal recessive congenital blindness. [provided by RefSeq, Oct 2008]

Cell projection, cilium . Situated between the axonemal microtubules and the plasma membrane (By similarity) . In the retinal photoreceptor cell layer, localizes at the connecting cilium, a thin bridge linking the cell body and the light-sensing outer segment (By similarity) . Colocalizes with RGPR in the photoreceptor connecting cilium (By similarity) . .