Nystagmus 1, Congenital (NYS1)

The 714-amino acid FRMD7 protein shares close homology with FARP1 and FARP2 that is concentrated at the N terminus of the protein, where B41 and FERM-C domains are present. Expression analysis of FRMD7 showed that the mRNA is present in most tissues at low levels. Tarpey et al. (2006) confirmed this by RT-PCR, detecting expression in human adult kidney, liver, pancreas, and, at low levels, heart and brain. In human fetal tissue, they detected the transcript only in kidney. In situ hybridization experiments in human embryonic brain showed expression in the ventricular layer of the forebrain, midbrain, cerebellum primordium, spinal cord, and developing neural retina in embryos approximately 56 days postovulation. In earlier embryos the expression was restricted to the mid- and hindbrain, regions known to be involved in motor control of eye movement.